SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia

Na(v) channels are essential for metazoan membrane depolarization, and Na(v) channel dysfunction is directly linked with epilepsy, ataxia, pain, arrhythmia, myotonia, and irritable bowel syndrome. Human Na(v) channelopathies are primarily caused by variants that directly affect Na(v) channel permeab...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Musa, Hassan, Kline, Crystal F., Sturm, Amy C., Murphy, Nathaniel, Adelman, Sara, Wang, Chaojian, Yan, Haidun, Johnson, Benjamin L., Csepe, Thomas A., Kilic, Ahmet, Higgins, Robert S. D., Janssen, Paul M. L., Fedorov, Vadim V., Weiss, Raul, Salazar, Christina, Hund, Thomas J., Pitt, Geoffrey S., Mohler, Peter J.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2015
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4603502/
https://ncbi.nlm.nih.gov/pubmed/26392562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1516430112
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