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Article

Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.

European journal of human genetics : EJHG - 1 Sept 2008

Frank-Hansen Rune, Page Stephen P, Syrris Petros, McKenna William J, Christiansen Michael, Andersen Paal Skytt

Abstract excerpt

Hypertrophic cardiomyopathy is primarily caused by mutations in genes encoding cardiac sarcomere proteins. Large screening studies identify mutations in 35-65% of the diagnosed patients and 15-30% of these are discovered within the MYBPC3 gene encoding the cardiac myosin binding protein C. The aim of this study is to determine whether intronic variation flanking the three micro-exons in MYBPC3 is disease-causing....

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Source

Identifiers

PMID: 18337725
DOI: 10.1038/ejhg.2008.52

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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