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Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L.

Cardiology in the young - 1 Apr 2016

Zhou Hui, Lai Wei, Zhu Wengen, Xie Jinyan, Liu Xin, Shen Yang, Yuan Ping, Liu Ying, Cao Qin, He Wenfeng, Hong Kui

Abstract excerpt

UNLABELLED: Aim Most long QT syndrome patients are associated with genetic mutations. We aimed to investigate the clinical and biochemical characteristics and look for genotype-based preventive implications in Chinese long QT syndrome patients. Methods and results We identified two missense mutations of the KCNQ1 gene in two independent Chinese families, including a previously reported mutation R380S in the...

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Identifiers

PMID: 26344792
DOI: 10.1017/S1047951115001304

Genes

KCNQ1

Variants

Provenance

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