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The importance of genetic diagnosis for Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper...
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| Publicado no: | J Med Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4789806/ https://ncbi.nlm.nih.gov/pubmed/26754139 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103387 |
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