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Article

[A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy].

Zhonghua xin xue guan bing za zhi - 1 Dec 2009

Wang Hu, Song Lei, Zou Yu-bao, Wang Ji-zheng, Sun Kai, Gao Shuo, Zhang Chan-na, Hui Ru-tai

Abstract excerpt

OBJECTIVE: To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy (HCM). METHODS: One hundred unrelated patients with HCM and 120 controls were enrolled in this study. The full encod...

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Source

Identifiers

PMID: 20193176

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20193176-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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[A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy].PMID 20193176Read ↗

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Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy.Semantic proximity Read ↗

[Mutation and clinical relevance in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy].Semantic proximity Read ↗

[Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene].Semantic proximity Read ↗

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.Semantic proximity Read ↗

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