A Novel <i>Loss-of-function</i> Mutation in <i>MYBPC3</i> Causes Familial Hypertrophic Cardiomyopathy with Extreme Intrafamilial Phenotypic Heterogeneity.

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第一作者： Y,Peng

第一单位： Department of Cardiology, the First Hospital of Lanzhou University, Lanzhou, China.

作者： Y,Peng ^[1] ; J,Xu ^[2] ; Y,Wang ^[3] ; J,Zhao ^[1] ; L,Zhang ^[2] ; Z,Chen ^[3] ; Y,Jiang ^[1] ; S,Banerjee ^[2] ; Z,Zhang ^[3] ; M,Bai ^[1]

作者单位： Department of Cardiology, the First Hospital of Lanzhou University, Lanzhou, China. ^[1] Key Laboratory for Cardiovascular Diseases of Gansu Province, Lanzhou University, Lanzhou, China. ^[2] Gansu Provincial Clinical Research Center for Cardiovascular Diseases, Lanzhou, China. ^[3] Department of Genetics, College of Basic Medical Sciences, Jilin University, Changchun, Jilin 130021, China. ^[4]

关键词 MYBPC3 gene familial hypertrophic cardiomyopathy heterozygous loss-of-function.novel variant

DOI 10.2478/bjmg-2022-0002

PMID 36880031

发布时间 2023-03-08

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