Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R
Sign Up to like & getrecommendations! Published in 2021 at "Channels"
DOI: 10.1080/19336950.2021.1875645
Abstract: ABSTRACT Background: Mutations in SCN5A that decrease Na current underlie arrhythmia syndromes such as the Brugada syndrome (BrS). SCN5A in humans has two splice variants, one lacking a glutamine at position 1077 (Q1077del) and one… read more here.
Keywords: splice; background; splice variant; r1512w ... See more keywords