The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current

The common polymorphism SCN5A-S1103Y (∼13% allelic frequency in African Americans) is a risk factor for arrhythmia, sudden unexplained death (SUD), and sudden infant death syndrome. Prompted by a case of autopsy-negative SUD in a 23-year-old African American man who collapsed while playing football,...

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Detalhes bibliográficos
Main Authors: Cheng, Jianding, Tester, David J., Tan, Bi-Hua, Valdivia, Carmen R., Kroboth, Stacie, Ye, Bin, January, Craig T., Ackerman, Michael J., Makielski, Jonathan C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2011
Assuntos:
Call for Papers: Functional Analysis of Sequence Variation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3110896/
https://ncbi.nlm.nih.gov/pubmed/21385947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/physiolgenomics.00198.2010
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