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Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies

Duchenne muscular dystrophy (DMD) is the commonest and best-known of the muscular dystrophies. Being an X-linked disorder, it affects mainly boys. The disease gene was identified in 1987, with the majority of mutations demonstrated to be large-scale deletions. Current best practice molecular diagnos...

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Библиографические подробности
Главные авторы: Laing, Nigel G, Davis, Mark R, Bayley, Klair, Fletcher, Sue, Wilton, Steve D
Формат: Artigo
Язык:Inglês
Опубликовано: The Australian Association of Clinical Biochemists 2011
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3157948/
https://ncbi.nlm.nih.gov/pubmed/21912442
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