SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhyth...
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
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Author / Creator
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 and Mohler, Peter J
Publisher
United States: National Acad Sciences
Journal title
Language
English
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Publisher
United States: National Acad Sciences
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Scope and Contents
Contents
Nav channels are essential for metazoan membrane depolarization, and Nav channel dysfunction is directly linked with epilepsy, ataxia, pain, arrhythmia, myotonia, and irritable bowel syndrome. Human Nav channelopathies are primarily caused by variants that directly affect Nav channel permeability or gating. However, a new class of human Nav channel...
Alternative Titles
Full title
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
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Record Identifier
TN_cdi_proquest_miscellaneous_1720449808
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1720449808
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1516430112
