An intronic mutation causes long QT syndrome
- 15 September 2004
- journal article
- research article
- Published by Elsevier in Journal of the American College of Cardiology
- Vol. 44 (6), 1283-1291
- https://doi.org/10.1016/j.jacc.2004.06.045
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channelsAmerican Journal of Physiology-Heart and Circulatory Physiology, 2004
- Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assayJournal of Medical Genetics, 2003
- Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac deathNature, 2003
- tau Exon 10 Expression Involves a Bipartite Intron 10 Regulatory Sequence and Weak 5′ and 3′ Splice SitesJournal of Biological Chemistry, 2002
- A new type of mutation causes a splicing defect in ATMNature Genetics, 2002
- The Transcriptional Repressor ZEB Regulates p73 Expression at the Crossroad between Proliferation and DifferentiationMolecular and Cellular Biology, 2001
- Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic ElementJournal of Biological Chemistry, 2000
- A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndromeCell, 1995
- Heterogeneity in the Inherited Long QT SyndromeJournal of Cardiovascular Electrophysiology, 1995
- The Spectrum of Symptoms and QT Intervals in Carriers of the Gene for the Long-QT SyndromeNew England Journal of Medicine, 1992