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Article

Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.

Clinical genetics - 1 Sept 2011

Christensen A H, Andersen C B, Tybjaerg-Hansen A, Haunso S, Svendsen J H

Abstract excerpt

A single report has associated mutations in TMEM43 (LUMA) with a distinctive form of arrhythmogenic right ventricular cardiomyopathy (ARVC). We aimed at performing mutational analysis of the gene and characterizing the associated immunohistochemical features. Sixty-five unrelated patients (55 ful...

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Source

Identifiers

PMID: 21214875
DOI: 10.1111/j.1399-0004.2011.01623.x

Genes

TMEM43

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21214875-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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