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The global distribution of the p.R1193Q polymorphism in the SCN5A gene.

Legal medicine (Tokyo, Japan) - 1 Mar 2016

Matsusue Aya, Yuasa Isao, Umetsu Kazuo, Nakayashiki Nori, Dewa Koji, Nishimukai Hiroaki, Kashiwagi Masayuki, Hara Kenji, Waters Brian, Takayama Mio, Ikematsu Natsuki, Kubo Shin-Ichi

Abstract excerpt

The SCN5A (sodium channel, voltage-gated, type V, alpha subunit) gene encodes the cardiac sodium channel, a member of the voltage-gated sodium channel family. The p.R1193Q (c.3578G>A) polymorphism in SCN5A is known to accelerate inactivation of the sodium channel current, and has been identified in patients with Brugada and long QT syndromes. In the present study, we investigated the frequency of the p.R1193Q...

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PMID: 26255078
DOI: 10.1016/j.legalmed.2015.07.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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