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Pleiotropic Phenotypes Associated With PKP2 Variants

Plakophilin-2 (PKP2) is a component of the desmosome complex and known for its role in cell-cell adhesion. Recently, alterations in the Pkp2 gene have been associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy (ACM or ARVC), Brugada syndrome (BrS), and idiopat...

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Detalles Bibliográficos
Autores principales: Novelli, Valeria, Malkani, Kabir, Cerrone, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305316/
https://www.ncbi.nlm.nih.gov/pubmed/30619891
http://dx.doi.org/10.3389/fcvm.2018.00184