Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

BACKGROUND: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the major gene being PKP2. The genetic cause remains unknown in ~50% of probands with routine desmosomal gene screening. The aim of t...

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Detalles Bibliográficos
Autores principales: Fedida, Joel, Fressart, Veronique, Charron, Philippe, Surget, Elodie, Hery, Tiphaine, Richard, Pascale, Donal, Erwan, Keren, Boris, Duthoit, Guillaume, Hidden-Lucet, Françoise, Villard, Eric, Gandjbakhch, Estelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540585/
https://www.ncbi.nlm.nih.gov/pubmed/28767663
http://dx.doi.org/10.1371/journal.pone.0181840

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