(Q35432280)

8 August 2017

title

Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family (English)

1 reference

Duchenne muscular dystrophy

8 August 2017

main subject

1 reference

Smith TA

1

1 reference

8 August 2017

Yau SC

series ordinal

2

1 reference

8 August 2017

Bobrow M

series ordinal

3

1 reference

8 August 2017

Abbs SJ

series ordinal

4

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 April 1999

1 reference

Journal of Medical Genetics

8 August 2017

published in

1 reference

8 August 2017

volume

36

1 reference

8 August 2017

issue

4

1 reference

8 August 2017

page(s)

313-315

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734355

8 August 2017

1 reference

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734355

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734355

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734355

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734355

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734355

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734355

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734355

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy

12 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10227400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1734355

1 reference

8 August 2017

1 reference