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Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. The genetic diagnosis is not easily made because of the large size of the dystrophin gene, complex mutational spectrum and high number of tests patients undergo for diagnosis. Multiplex ligation-d...
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| Izdano u: | J Hum Genet |
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| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2016
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4931045/ https://ncbi.nlm.nih.gov/pubmed/26911353 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2016.7 |
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