Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.

doi:10.1016/j.cardiores.2004.10.005

Article

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.

Cardiovascular research - 1 Feb 2005

Beffagna Giorgia, Occhi Gianluca, Nava Andrea, Vitiello Libero, Ditadi Andrea, Basso Cristina, Bauce Barbara, Carraro Gianni, Thiene Gaetano, Towbin Jeffrey A, Danieli Gian Antonio, Rampazzo Alessandra

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OBJECTIVE: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous disorder characterized by fibro-fatty replacement of the right ventricular myocardium, associated with high risk of sudden death. The objective of this study is to identify the gene involved in ARVD1, which has been elusive ever since its locus was mapped to chromosome 14q24.3. METHODS AND RESULTS: Mutation screening...

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Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.

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