Location via proxy:
[ UP ]
[Report a bug]
[Manage cookies]
No cookies
No scripts
No ads
No referrer
Show this form
Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q78705444)
Watch
English
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases
scientific article published on 01 January 2003
In more languages
default for all languages
No label defined
No description defined
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
title
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
author name string
Alexey S Kondrashov
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
publication date
1 January 2003
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
volume
21
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
page(s)
12-27
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
cites work
Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for a High Frequency of Simultaneous Double-Nucleotide Substitutions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pkd1 unusual DNA conformations are recognized by nucleotide excision repair
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Testicular feminization syndrome and associated gonadal tumors in Denmark
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The spectrum of primary immunodeficiency disorders in Australia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Software and database for the analysis of mutations in the VHL gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epidemiology of familial adenomatous polyposis in Sweden: changes over time and differences in phenotype between males and females
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial adenomatous polyposis (FAP) and its gene, APC.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PAX-6 in development and evolution
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation in the PAX6 gene in twenty patients with aniridia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in btk in patients with presumed X-linked agammaglobulinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The origins, patterns and implications of human spontaneous mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new study challenges the current belief of a high human male:female mutation ratio
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Studies of the aetiology of neonatal hepatitis and biliary atresia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Segregation analysis of Alagille syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Segregation analysis of autosomal dominant polycystic kidney disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Alagille syndrome: family studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Emery-Dreifuss muscular dystrophy - a 40 year retrospective
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary immunodeficiency disorders in Sweden: Cases among children, 1974?1979
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The ABC of APC
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Seven Novel Mutations in the APC Gene of Portuguese Families with Familial Adenomatous Polyposis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe combined immunodeficiencies (SCID)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Retinoblastoma mutation rate in New Zealand and support for the two-hit model
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Haemophilia B: database of point mutations and short additions and deletions--eighth edition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chronic granulomatous disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis in 20 patients with Hunter disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hunter disease in the Spanish population: molecular analysis in 31 families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The size distribution of insertions and deletions in human and rodent pseudogenes suggests the logarithmic gap penalty for sequence alignment
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The rate of spontaneous mutation of a human gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chronic granulomatous disease in Japan: incidence and natural history. The Study Group of Phagocyte Disorders of Japan
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hematologically important mutations: X-linked chronic granulomatous disease (second update).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inherited and de novo androgen receptor gene mutations: investigation of single-case families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The prevalence of inherited neuromuscular disease in Northern Ireland
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deleterious mutations and the evolution of sexual reproduction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Measuring spontaneous deleterious mutation process.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human Gene Mutation Database?A biomedical information and research resource
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
3' deletions cause aniridia by preventing PAX6 gene expression
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Estimating prevalence in single-gene kidney diseases progressing to renal failure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis in 23 Hunter disease families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recombination hotspot in NF1 microdeletion patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new set of primers for mutation analysis of the human PAX6 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A genetic register for von Hippel-Lindau disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Von Hippel-Lindau disease: a genetic study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evolutionary parameters of the transcribed mammalian genome: an analysis of 2,820 orthologous rodent and human sequences
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Estimated frequency of urea cycle enzymopathies in Japan
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Incidence of the mucopolysaccharidoses in Northern Ireland
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis in emery-dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frequency of tuberous sclerosis in San-in district (Japan) and birth weight of patients with tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evaluation of DHPLC in the analysis of hemophilia A.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evolution of genome size: new approaches to an old problem
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Thirteen novel mutations of the replicated region of PKD1 in an Asian population
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The frequency of lysosomal storage diseases in The Netherlands.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PAX6 mutations reviewed
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic aspects of tuberous sclerosis in the west of Scotland
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: a 1998 perspective
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Selective constraint in intergenic regions of human and mouse genomes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recent human germ-line mutation: inferences from patients with hemophilia B.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Occurrence of hemophilia in the United States. The Hemophilia Surveillance System Project Investigators
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Jagged1 mutations in alagille syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary immunodeficiency diseases in Norway
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prediction of deleterious human alleles
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dystrophin point mutation screening using a multiplexed protein truncation test.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The proteins of linked genes evolve at similar rates
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chronic granulomatous disease. Report on a national registry of 368 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
[Molecular genetic study of the PAX6 gene in aniridia patients]
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ten novel mutations found in Aniridia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline mutations of the APC gene in Korean familial adenomatous polyposis patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Emery-Dreifuss Muscular Dystrophy Mutation Database
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.10147
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.10147
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
PubMed publication ID
12497628
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12497628
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12497628%20AND%20SRC:MED&resulttype=core&format=json
retrieved
16 December 2019
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
