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Article

Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing.

Journal of molecular and cellular cardiology - 1 Jul 2004

Sharma Dipika, Glatter Kathryn A, Timofeyev V, Tuteja Dipika, Zhang Zhao, Rodriguez Jennifer, Tester David J, Low Reginald, Scheinman Melvin M, Ackerman Michael J, Chiamvimonvat Nipavan

Abstract excerpt

Congenital long QT syndrome (LQTS) is a genetic disease that predisposes affected individuals to arrhythmias, syncope, and sudden death. Mutations in several ion channel genes have been discovered in different families with LQTS: KCNQ1 (KVLQT1, LQT1), KCNH2 (HERG, LQT2), SCN5A (LQT3), KCNE1 (minK, LQT5), and KCNE2 (MiRP1, LQT6). Previously, the P448R-KVLQT1 missense mutation has been reported as an LQT1-causing...

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Source

Identifiers

PMID: 15242738
DOI: 10.1016/j.yjmcc.2004.03.015

Genes

KCNQ1
KCNH2

Variants

Provenance

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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Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing.PMID 15242738Read ↗

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