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.

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.

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 mouse model w...

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Bibliographic Details
Main Authors: Anne-Laure Leoni, Bruno Gavillet, Jean-Sébastien Rougier, Céline Marionneau, Vincent Probst, Solena Le Scouarnec, Jean-Jacques Schott, Sophie Demolombe, Patrick Bruneval, Christopher L H Huang, William H Colledge, Andrew A Grace, Hervé Le Marec, Arthur A Wilde, Peter J Mohler, Denis Escande, Hugues Abriel, Flavien Charpentier
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-02-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2824822?pdf=render

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http://europepmc.org/articles/PMC2824822?pdf=render

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