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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Publicat a:J Clin Invest
Autors principals: Anan, R, Greve, G, Thierfelder, L, Watkins, H, McKenna, W J, Solomon, S, Vecchio, C, Shono, H, Nakao, S, Tanaka, H
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 1994
Matèries:
Research Article
Accés en línia: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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