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Article

Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome.

Genetic testing - 1 Jan 2003

Ning Li, Moss Arthur, Zareba Woject, Robinson Jennifer, Rosero Spencer, Ryan Dan, Qi Ming

Abstract excerpt

Multiple mutations in several ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and KCNJ2) have been shown to cause autosomal dominant long QT syndrome (LQTS), a familial cardiac disorder that causes syncope, seizures, and sudden death. Due to their multiple loci and considerable size, mutati...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nucleic Acid Denaturation

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 14642002
DOI: 10.1089/109065703322537287

Genes

KCNH2
KCNJ2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14642002-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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