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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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| Veröffentlicht in: | Orphanet J Rare Dis |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2017
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| Schlagworte: | |
| Online Zugang: | 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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