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Article

An intronic mutation causes long QT syndrome.

Journal of the American College of Cardiology - 15 Sept 2004

Zhang Li, Vincent G Michael, Baralle Marco, Baralle Francisco E, Anson Blake D, Benson D Woodrow, Whiting Bryant, Timothy Katherine W, Carlquist John, January Craig T, Keating Mark T, Splawski Igor

Abstract excerpt

OBJECTIVES: The purpose of this research was to determine whether an intronic variant (T1945+6C) in KCNH2 is a disease-causing mutation, and if expanded phenotyping criteria produce improved identification of long QT syndrome (LQTS) patients. BACKGROUND: Long QT syndrome is usually caused by mutations in conserved coding regions or invariant splice sites, yet no mutation is found in 30% to 50% of families. In one...

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Source

Identifiers

PMID: 15364333
DOI: 10.1016/j.jacc.2004.06.045

Genes

KCNH2

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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