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The Origins of Hypertrophic Cardiomyopathy–Causing Mutations in Two South African Subpopulations: A Unique Profile of Both Independent and Founder Events

Hypertrophic cardiomyopathy (HCM) is an autosomal dominantly inherited disease of the cardiac sarcomere, caused by numerous mutations in genes encoding protein components of this structure. Mutation carriers are at risk of sudden cardiac death, mostly as adolescents or young adults. The reproductive...

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Detaylı Bibliyografya
Asıl Yazarlar: Moolman-Smook, Johanna C., De Lange, Willem J., Bruwer, Eduard C. D., Brink, Paul A., Corfield, Valerie A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 1999
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288283/
https://ncbi.nlm.nih.gov/pubmed/10521296
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