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Article

L539 fs/47, a truncated mutation of human ether-a-go-go-related gene (hERG), decreases hERG ion channel currents in HEK 293 cells.

Clinical and experimental pharmacology & physiology - 1 Jan 2013

Zhang Aifeng, Sun Chaofeng, Zhang Li, Lv Ying, Xue Xiaolin, Li Guoliang, Cui Changcong, Yan Gan-Xin

Abstract excerpt

Mutations in the human ether-a-go-go-related gene (hERG) are responsible for congenital Type 2 long QT syndrome (LQT2). Previously, we reported a truncated mutation of hERG in a Chinese family with LQT2, namely L539 fs/47, which is composed of a 19 bp deletion mutation and an A1692G polymorphism. This mutation was found to cause an LQT2 phenotype. The aim of the present study was to investigate the functional...

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PMID: 23134353
DOI: 10.1111/1440-1681.12028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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