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The MYH7 p.R787H mutation causes hypertrophic cardiomyopathy in two unrelated families

BACKGROUND: Familial hypertrophic cardiomyopathy (FHC) is a Mendelian disorder usually caused by mutations in any one of more than 12 genes, most of which encode sarcomere proteins. The disease exhibits extensive genetic heterogeneity, and it is important to identify mutations that result in adverse...

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Main Authors: Purushotham, G, Madhumohan, K, Anwaruddin, Mohammad, Nagarajaram, HA, Hariram, Vuppaladadhiam, Narasimhan, Calambur, Bashyam, Murali D
格式: Artigo
語言:Inglês
出版: Pulsus Group Inc 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2907879/
https://ncbi.nlm.nih.gov/pubmed/20664766
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