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Comprehensive genetic characteristics of dystrophinopathies in China

BACKGROUND: Dystrophinopathies are a set of severe and incurable X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD). These mutations form a complex spectrum. A national registration network is essential not only to provide more information about the prevalence and natu...

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Detalles Bibliográficos
Autores principales: Ma, Peipei, Zhang, Shu, Zhang, Hao, Fang, Siying, Dong, Yuru, Zhang, Yan, Hao, Weiwei, Wu, Shiwen, Zhao, Yuying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032532/
https://www.ncbi.nlm.nih.gov/pubmed/29973226
http://dx.doi.org/10.1186/s13023-018-0853-z