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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Detalles Bibliográficos
Autores principales: Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580216/
https://www.ncbi.nlm.nih.gov/pubmed/28859693
http://dx.doi.org/10.1186/s13023-017-0703-4

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