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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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Библиографические подробности
Опубликовано в: :J Med Genet
Главные авторы: Aartsma-Rus, Annemieke, Ginjaar, Ieke B, Bushby, Kate
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Publishing Group 2016
Предметы:
Online-ссылка: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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