Articles with "scn5a polymorphism" as a keyword



H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters

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Published in 2017 at "Journal of Biomedical Science"

DOI: 10.1186/s12929-017-0397-x

Abstract: BackgroundA common SCN5A polymorphism H558R (c.1673 A > G, rs1805124) improves sodium channel activity in mutated channels and known to be a genetic modifier of Brugada syndrome patients (BrS). We investigated clinical manifestations and underlying mechanisms of… read more here.

Keywords: scn5a polymorphism; methylation; expression; scn5a ... See more keywords