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Article

A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome.

Journal of molecular and cellular cardiology - 1 Mar 2008

Gong Qiuming, Zhang Li, Moss Arthur J, Vincent G Michael, Ackerman Michael J, Robinson Jeffrey C, Jones Melanie A, Tester David J, Zhou Zhengfeng

Abstract excerpt

Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this study, we investigated the pathogenic mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype relationship of mutation carriers in three unrelated kindreds with long QT syndrome. The effect of 2398+1G>C on mRNA splicing was studied by analysis of RNA isolated from lymphocytes of index patients...

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Identifiers

PMID: 18272172
DOI: 10.1016/j.yjmcc.2008.01.002
PMCID: PMC2346779

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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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