Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. The genetic diagnosis is not easily made because of the large size of the dystrophin gene, complex mutational spectrum and high number of tests patients undergo for diagnosis. Multiplex ligation-d...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Hum Genet
Main Authors: Okubo, Mariko, Minami, Narihiro, Goto, Kanako, Goto, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Nishino, Ichizo
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4931045/
https://ncbi.nlm.nih.gov/pubmed/26911353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2016.7
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker