Article
Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy.
Genetic testing and molecular biomarkers - 1 Apr 2011
Christensen Alex Hørby, Benn Marianne, Tybjærg-Hansen Anne, Haunso Stig, Svendsen Jesper Hastrup
Abstract excerpt
Arrhythmogenic right ventricular cardiomyopathy (ARVC) has been associated with mutations in genes encoding cellular adhesion proteins. However, only about 40% of patients have mutations in known genes. We hypothesized that mutations in the genes encoding β-catenin (CTNNB1), α-T-catenin (CTNNA3), and PERP (PERP)-all important structural proteins located at the intercalated disc-were involved in the pathogenesis...
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