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Article

Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

Journal of medical genetics - 1 Nov 2010

Christensen A H, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen J H

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a lethal condition characterised by ventricular tachyarrhythmias, right and/or left ventricular involvement and fibrofatty infiltrations in the myocardium. The disease has been associated with mutations in genes encoding desmosomal proteins. OBJECTIVE: To thoroughly evaluate an ARVC cohort for desmosomal mutations and large genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20864495
DOI: 10.1136/jmg.2010.077891

Genes

DSP
DSC2
DSG2
JUP
PKP2

Variants

Provenance

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