A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

Brugada syndrome (BrS) is a life-threatening, inherited arrhythmogenic syndrome associated with autosomal dominant mutations in SCN5A, the gene encoding the cardiac Na(+) channel alpha subunit (Na(v)1.5). The aim of this work was to characterize the functional alterations caused by a novel SCN5A mut...

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Detalles Bibliográficos
Autores principales: Tarradas, Anna, Selga, Elisabet, Beltran-Alvarez, Pedro, Pérez-Serra, Alexandra, Riuró, Helena, Picó, Ferran, Iglesias, Anna, Campuzano, Oscar, Castro-Urda, Víctor, Fernández-Lozano, Ignacio, Pérez, Guillermo J., Scornik, Fabiana S., Brugada, Ramon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538753/
https://www.ncbi.nlm.nih.gov/pubmed/23308164
http://dx.doi.org/10.1371/journal.pone.0053220

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