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Article

[P1208fs mutation in the cardiac myosin binding protein C is associated with hypertrophic cardiomyopathy in a Chinese pedigree].

Zhonghua xin xue guan bing za zhi - 24 Apr 2016

Li J, Liu L W, Na L S, Zuo L, Qi W, Liu Y, Shao H, Ma Z L, Wang L F

Abstract excerpt

OBJECTIVE: To identify the potential mutations in a Chinese pedigree with hypertrophic cardiomyopathy (HCM), and to analyze the genotype-phenotype relationship in this pedigree. METHODS: Clinical history and physical examinations, electrocardiography (ECG), echocardiography (UCG), cardiac magnetic resonance (CMR) data were obtained from 10 members of a three-generation Chinese family with HCM. A total of 96 genes...

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Source

Identifiers

PMID: 27112610
DOI: 10.3760/cma.j.issn.0253-3758.2016.04.009

Genes

ANK2
MYBPC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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