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Article

Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.

Journal of medical genetics - 1 Mar 1998

Moolman-Smook J C, Mayosi B, Brink P, Corfield V A

Abstract excerpt

Hypertrophic cardiomyopathy is a primary cardiac disease, characterised by idiopathic myocardial hypertrophy, and is caused by defects in sarcomeric protein encoding genes. One of these genes is cardiac myosin binding protein C (MyBP-C), in which a number of splice site and duplication mutations causing HCM have been described. During mutation screening of a South African HCM population by PCR-SSCP, a missense...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9541115
DOI: 10.1136/jmg.35.3.253
PMCID: PMC1051254

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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.

Related research

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Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.PMID 9541115Read ↗

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Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.Semantic proximity Read ↗

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.Semantic proximity Read ↗

A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.Semantic proximity Read ↗

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.Semantic proximity Read ↗

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 geneSemantic proximity Read ↗

Identification of Variants and Mutational Analyses of Cardiac Myosin-binding Protein C (MYBPC3) Gene of Adult Bangladeshi Patients with Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

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