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Article

[Mutation analysis of a Chinese family with inherited long QT syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2005

Du Rong, Yang Jun-guo, Li Wei, Gui Le, Yuan Guo-hui, Kang Cai-lian, Ren Fa-xin, Zhang Shou-yan

Abstract excerpt

OBJECTIVE: To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS). METHODS: The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation. RESULTS: A missense mutation G940A(G314S) in the KCNQ1 gene was identified,...

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Source

Identifiers

PMID: 15696484

Genes

KCNQ1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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