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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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2017
Konular:
Research
Online Erişim: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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