[Analysis of genotype and phenotype correlation of MYH7-V878A mutation among ethnic Han Chinese pedigrees affected with hypertrophic cardiomyopathy].

doi:10.3760/cma.j.issn.1003-9406.2017.04.010

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Article

[Analysis of genotype and phenotype correlation of MYH7-V878A mutation among ethnic Han Chinese pedigrees affected with hypertrophic cardiomyopathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2017

Wang Bo, Guo Ruiqi, Zuo Lei, Shao Hong, Liu Ying, Wang Yu, Ju Yan, Sun Chao, Wang Lifeng, Zhang Yanmin, Liu Liwen

Abstract excerpt

OBJECTIVE: To analyze the phenotype-genotype correlation of MYH7-V878A mutation. METHODS: Exonic amplification and high-throughput sequencing of 96-cardiovascular disease-related genes were carried out on probands from 210 pedigrees affected with hypertrophic cardiomyopathy (HCM). For the probands, their family members, and 300 healthy volunteers, the identified MYH7-V878A mutation was verified by Sanger...

Topics

Adult
Amino Acid Sequence
Asian People
Cardiac Myosins
Cardiomyopathy, Hypertrophic
Female
Genetic Association Studies
Genotype
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Myosin Heavy Chains

Pedigree

Phenotype

Young Adult

Source

Open in PubMed

Identifiers

PMID: 28777849
DOI: 10.3760/cma.j.issn.1003-9406.2017.04.010

Genes

MYH7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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