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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:J Hum Genet
Hoofdauteurs: Okubo, Mariko, Minami, Narihiro, Goto, Kanako, Goto, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Nishino, Ichizo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2016
Onderwerpen:
Original Article
Online toegang: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: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items