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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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書誌詳細
主要な著者: Anan, R, Greve, G, Thierfelder, L, Watkins, H, McKenna, W J, Solomon, S, Vecchio, C, Shono, H, Nakao, S, Tanaka, H
フォーマット: Artigo
言語:Inglês
出版事項: 1994
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC293763/
https://ncbi.nlm.nih.gov/pubmed/8282798
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