(Q42115370)

16 October 2017

De novo deletions in spinal muscular atrophy: implications for genetic counselling (English)

1 reference

16 October 2017

spinal muscular atrophy

1 reference

1 reference

4

Munnich A

1 reference

16 October 2017

5

Melki J

1 reference

16 October 2017

Raclin V

1

1 reference

16 October 2017

Veber PS

series ordinal

2

1 reference

16 October 2017

Bürglen L

series ordinal

3

1 reference

16 October 2017

language of work or name

English

0 references

publication date

1 January 1997

1 reference

Journal of Medical Genetics

16 October 2017

1 reference

16 October 2017

34

1 reference

16 October 2017

1

1 reference

16 October 2017

86-87

1 reference

Structure and organization of the human survival motor neurone (SMN) gene

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

Molecular basis of spinal muscular atrophy in Chinese.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

Identification and characterization of a spinal muscular atrophy-determining gene

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050854

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9032657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9032657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9032657

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.1.86

1 reference

16 October 2017

1 reference

16 October 2017

PubMed publication ID

9032657

1 reference