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Article

Characterization of a novel Long QT syndrome mutation G52R-KCNE1 in a Chinese family.

Cardiovascular research - 1 Sept 2003

Ma Lijuan, Lin Chunxia, Teng Siyong, Chai Yongping, Bähring Robert, Vardanyan Vitya, Li Liang, Pongs Olaf, Hui Rutai

Abstract excerpt

OBJECTIVES: To identify the underlying genetic basis of a Chinese pedigree with Long QT syndrome, the causally related genes were screened in a family and the functional consequence of the identified gene mutation was evaluated in vitro. METHODS: Mutations in the five defined Long QT syndrome rel...

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Source

Identifiers

PMID: 14499862
DOI: 10.1016/s0008-6363(03)00510-8

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14499862-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Characterization of a novel Long QT syndrome mutation G52R-KCNE1 in a Chinese family.PMID 14499862Read ↗

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