SCN5A(K817E), a novel Brugada syndrome–associated mutation that alters the activation gating of NaV1.5 channel

Brugada syndrome (BrS) is an inherited lethal arrhythmic disorder characterized by syncope and sudden cardiac death from ventricular tachyarrhythmias. Here we identified a novel K817E mutation of SCN5A gene in a man with type 1 BrS electrocardiogram pattern using next-generation sequencing targeted...

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Veröffentlicht in:Heart rhythm 2016-05, Vol.13 (5), p.1113-1120
Hauptverfasser: Kinoshita, Koshi, Takahashi, Hiroyuki, Hata, Yukiko, Nishide, Kohki, Kato, Mario, Fujita, Hiroki, Yoshida, Sho, Murai, Kazutaka, Mizumaki, Koichi, Nishida, Kunihiro, Yamaguchi, Yoshiaki, Kano, Masanobu, Tabata, Toshihide, Nishida, Naoki
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Sprache:eng
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