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Article

Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.

Chinese medical journal - 1 Sept 2003

Liu Wenling, Hu Dayi, Li Cuilan, Li Ping, Li Yuntian, Li Zhiming, Li Lei, Qin Xuguang, Dong Wei, Qi Yu, Chen Shenghan, Wang Qing

Abstract excerpt

OBJECTIVE: To determine mutations of two common potassium channel subunit genes KCNQ1, KCNH2 causing long QT syndrome (LQTS) in the Chinese. METHODS: Thirty-one Chinese LQTS pedigrees were characterized for mutations in the two LQTS genes, KCNQ1 and KCNH2, by sequencing. RESULTS: Two novel KCNQ1 mutations, S277L in the S5 domain and G306V in the channel pore, and two novel KCNH2 mutations, L413P in the...

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Source

Identifiers

PMID: 14527360

Genes

KCNH2
KCNQ1

Variants

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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