Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common disease in children caused by mutations in the DMD gene, and DMD and Becker muscular dystrophy (BMD) are collectively called dystrophinopathies. Dystrophinopathies show a complex mutation spectrum. The importance of mutation databases,...

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Bibliografiska uppgifter
I publikationen:Orphanet J Rare Dis
Huvudupphovsmän: Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2017
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5580216/
https://ncbi.nlm.nih.gov/pubmed/28859693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0703-4
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