(Q41139742)

English

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

scientific article published on August 1991

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scholarly article

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Europe PubMed Central

PubMed publication ID

27 September 2017

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

cystic fibrosis

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David N. Cooper

2

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

Ryszard Słomski

object named as

R Slomski

4

0 references

3

object named as

J Bal

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

author name string

J Reiss

1

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

G R Cutting

5

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

M Krawczak

6

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Europe PubMed Central

PubMed publication ID

27 September 2017

publication date

1 August 1991

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

87

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

4

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Europe PubMed Central

PubMed publication ID

27 September 2017

457-461

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Additional polymorphism for D7S8 linked to cystic fibrosis including detection by DNA amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reactions

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cystic fibrosis patient homozygous for the nonsense mutation R553X

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amplification of a variable number of tandem repeats (VNTR) locus (pMCT118) by the polymerase chain reaction (PCR) and its application to forensic science

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional mapping of six cloned DNA sequences on human chromosome 7.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A long-range restriction map encompassing the cystic fibrosis locus and its closely linked genetic markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA polymorphism and the study of disease associations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The CpG dinucleotide and human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1715309

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00197168

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 September 2017

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