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Article

A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.

Biochemical and biophysical research communications - 7 Jul 2006

Vasile Vlad C, Ommen Steve R, Edwards William D, Ackerman Michael J

Abstract excerpt

The R975W mutation, in the alternatively spliced exon 19 of vinculin (VCL) which yields the isoform metavinculin, was associated previously with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), and shown to alter in vivo organization of intercalated discs. We tested the hypothe...

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Source

Identifiers

PMID: 16712796
DOI: 10.1016/j.bbrc.2006.04.151

Genes

VCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16712796-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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