Articles with "scn1b variant" as a keyword



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Brugada Syndrome Caused by Sodium Channel Dysfunction Associated with a SCN1B Variant A197V.

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Published in 2020 at "Archives of medical research"

DOI: 10.1016/j.arcmed.2020.02.003

Abstract: OBJECTIVE We aimed to identify and characterize a SCN1B variant, A197V, associated with Brugada Syndrome (BrS). METHODS Whole-exome sequencing was employed to explore the potential causative genes in 8 unrelated clinically diagnosed BrS patients. A197V… read more here.

Keywords: syndrome caused; brugada syndrome; scn1b variant; channel ... See more keywords