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Article

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.

Heart rhythm - 1 Sept 2008

Eddy Carey-Anne, MacCormick Judith M, Chung Seo-Kyung, Crawford Jackie R, Love Donald R, Rees Mark I, Skinner Jonathan R, Shelling Andrew N

Abstract excerpt

BACKGROUND: Sequencing or denaturing high-performance liquid chromatography (dHPLC) analysis of the known genes associated with the long QT syndrome (LQTS) fails to identify mutations in approximately 25% of subjects with inherited LQTS. Large gene deletions and duplications can be missed with these methodologies. OBJECTIVE: The purpose of this study was to determine whether deletions and/or duplications of one...

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Source

Identifiers

PMID: 18774102
DOI: 10.1016/j.hrthm.2008.05.033

Genes

KCNH2
KCNQ1

Provenance

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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Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome.PMID 18774102Read ↗

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