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Article

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome.

Heart rhythm - 1 Feb 2009

Crotti Lia, Lewandowska Marzena A, Schwartz Peter J, Insolia Roberto, Pedrazzini Matteo, Bussani Erica, Dagradi Federica, George Alfred L, Pagani Franco

Abstract excerpt

BACKGROUND: Genetic screening of long QT syndrome (LQTS) fails to identify disease-causing mutations in about 30% of patients. So far, molecular screening has focused mainly on coding sequence mutations or on substitutions at canonical splice sites. OBJECTIVE: The purpose of this study was to explore the possibility that intronic variants not at canonical splice sites might affect splicing regulatory elements,...

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Source

Identifiers

PMID: 19187913
DOI: 10.1016/j.hrthm.2008.10.044

Genes

KCNH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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