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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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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 |
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