Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscle-wasting disorder with an incidence of approximately 1/3,500 male births. Females are also affected, in rare instances. The manifestation of mild to severe symptoms in female carriers of dystrophin mutations is often the resu...

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Главные авторы: Quan, F, Janas, J, Toth-Fejel, S, Johnson, D B, Wolford, J K, Popovich, B W
Формат: Artigo
Язык:Inglês
Опубликовано: 1997
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712557/
https://ncbi.nlm.nih.gov/pubmed/8981959
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