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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...
Autores principales: | Aartsma-Rus, Annemieke, Ginjaar, Ieke B, Bushby, Kate |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789806/ https://www.ncbi.nlm.nih.gov/pubmed/26754139 http://dx.doi.org/10.1136/jmedgenet-2015-103387 |
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