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Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis

BACKGROUND: SCN5A is a susceptibility gene for type 3 long QT syndrome, Brugada syndrome, and sudden infant death syndrome. I (Na) dysfunction from mutated SCN5A can depend upon the splice variant background in which it is expressed and also upon environmental factors such as acidosis. S1787N was re...

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Detalles Bibliográficos
Autores principales: Hu, Rou-Mu, Tan, Bi-Hua, Tester, David J., Song, Chunhua, He, Yang, Dovat, Sinisa, Peterson, Blaise Z., Ackerman, Michael J., Makielski, Jonathan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414567/
https://www.ncbi.nlm.nih.gov/pubmed/25923670
http://dx.doi.org/10.1371/journal.pone.0124921