Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

Three novel beta cardiac myosin heavy chain (MHC) gene missense mutations, Phe513Cys, Gly716Arg, and Arg719Trp, which cause familial hypertrophic cardiomyopathy (FHC) are described. One mutation in exon 15 (Phe513Cys) does not alter the charge of the encoded amino acid, and affected family members h...

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Publié dans:	J Clin Invest
Auteurs principaux:	Anan, R, Greve, G, Thierfelder, L, Watkins, H, McKenna, W J, Solomon, S, Vecchio, C, Shono, H, Nakao, S, Tanaka, H
Format:	Artigo
Langue:	Inglês
Publié:	American Society for Clinical Investigation 1994
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC293763/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8282798/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116957
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