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Multiple mutation in an extended Duchenne muscular dystrophy family.

We have investigated an extended pedigree with three cousins affected by Duchenne muscular dystrophy with apparent transmission through the male line. However, molecular studies have shown that one boy has a de novo duplication, another has a deletion, and the molecular mutation has yet to be define...

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Detaylı Bibliyografya
Asıl Yazarlar: Miciak, A, Keen, A, Jadayel, D, Bundey, S
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1992
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015852/
https://ncbi.nlm.nih.gov/pubmed/1351947
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