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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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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 |