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Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

BACKGROUND: The diagnosis of arrhythmogenic right ventricular cardiomyopathy can be challenging. Disease-causing mutations in desmosomal genes have been identified. A novel diagnostic feature, loss of immunoreactivity for plakoglobin from the intercalated disks, recently was proposed. OBJECTIVE: The...

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Detalles Bibliográficos
Autores principales:	Gehmlich, Katja, Asimaki, Angeliki, Cahill, Thomas J., Ehler, Elisabeth, Syrris, Petros, Zachara, Elisabetta, Re, Federica, Avella, Andrea, Monserrat, Lorenzo, Saffitz, Jeffrey E., McKenna, William J.
Formato:	Texto
Lenguaje:	English
Publicado:	Elsevier 2010
Materias:	Focus issue: Sudden cardiac arrest
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994644/ https://www.ncbi.nlm.nih.gov/pubmed/20708101 http://dx.doi.org/10.1016/j.hrthm.2010.08.007

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