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Article

Latent pathogenicity of the G38S polymorphism of KCNE1 K+ channel modulator.

Heart and vessels - 1 Feb 2017

Yamaguchi Yoshiaki, Mizumaki Koichi, Hata Yukiko, Sakamoto Tamotsu, Nakatani Yosuke, Kataoka Naoya, Ichida Fukiko, Inoue Hiroshi, Nishida Naoki

Abstract excerpt

KCNE1 encodes a modulator of KCNQ1 and KCNH2 channels. Although KCNE1(G38S), a single-nucleotide polymorphism (SNP) causing a G38S substitution in KCNE1, is found frequently, whether and how this SNP causes long QT syndrome (LQTS) remains unclear. We evaluated rate-dependent repolarization dynamics using Holter electrocardiogram (ECG) to assess the pathogenicity of KCNE1(G38S). Forty-five patients exhibiting long...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27255646
DOI: 10.1007/s00380-016-0859-1

Genes

KCNH2
KCNQ1

Provenance

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