Variable Na(v)1.5 Protein Expression from the Wild-Type Allele Correlates with the Penetrance of Cardiac Conduction Disease in the Scn5a (+/−) Mouse Model

BACKGROUND: Loss-of-function mutations in SCN5A, the gene encoding Na(v)1.5 Na(+) channel, are associated with inherited cardiac conduction defects and Brugada syndrome, which both exhibit variable phenotypic penetrance of conduction defects. We investigated the mechanisms of this heterogeneity in a...

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Detalles Bibliográficos
Autores principales: Leoni, Anne-Laure, Gavillet, Bruno, Rougier, Jean-Sébastien, Marionneau, Céline, Probst, Vincent, Le Scouarnec, Solena, Schott, Jean-Jacques, Demolombe, Sophie, Bruneval, Patrick, Huang, Christopher L. H., Colledge, William H., Grace, Andrew A., Le Marec, Hervé, Wilde, Arthur A., Mohler, Peter J., Escande, Denis, Abriel, Hugues, Charpentier, Flavien
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824822/
https://www.ncbi.nlm.nih.gov/pubmed/20174578
http://dx.doi.org/10.1371/journal.pone.0009298

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