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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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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6032532/ https://ncbi.nlm.nih.gov/pubmed/29973226 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0853-z |
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