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Article

R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese

1 Feb 2005

Abstract excerpt

Recently, Wang et al 1 reported R1193Q mutation of SCN5A in one of the seven patients with acquired long QT syndrome (LQTS) and suggested that R1193Q is a functional mutation that can increase the susceptibility to this syndrome. The mutation destabilised channel inactivation and generated a persistent late current. The investigators found that 0.2% (4/2087) of the control subjects (of whom more than 90% were...

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Identifiers

PMID: 15689442
DOI: 10.1136/jmg.2004.027995

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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