Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy.

Subjects

Subjects :

Exons
Family Health
Female
Haplotypes
Humans
Male
Models, Genetic
Mutation
Phenotype
Phylogeny
Dystrophin genetics
Mosaicism
Muscular Dystrophy, Duchenne genetics
Point Mutation

Details

Language :

English

ISSN :

1552-4825

Volume :

118A

Issue :

3

Database :

MEDLINE

Journal :

American journal of medical genetics. Part A

Publication Type :

Report

Accession number :

12673664

Full Text :

https://doi.org/10.1002/ajmg.a.10056