Molecular genetics of the Long QT syndrome

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Publication Type dissertation
School or College School of Medicine
Department Human Genetics
Author Splawski, Igor
Contributor Sanguinett, Mike
Title Molecular genetics of the Long QT syndrome
Date 1999-05
Description Long QT syndrome (LQT) is a cardiovascular disorder that causes syncope, seizures and sudden death. Two forms of inherited LQT have been identified, autosomal dominant and autosomal recessive. The autosomal dominant form is the most common form and is not associated with other known phenotypic abnormalities. Autosomal recessive LQT is associated with congenital neural deafness. The symptoms of LQT result from cardiac arrhythmias, specifically ventricular tachyarrhythmias, like torsade de pointes and ventricular fibrillation. In 1991, a gene for autosomal dominant LQT was localized to chromosome 11p15.5 (LQT1) in our laboratory. We employed linkage analyses, using PCR-based polymorphic markers regularly spaced throughout the human genome, to identify two new loci for autosomal dominant LQT-7q35-36 (LQT2) and 3p21-24 (<>LQT3
Type Text
Publisher University of Utah
Subject MESH Heart Defects, Congenital; Long QT Syndrome
Dissertation Institution University of Utah
Dissertation Name PhD
Language eng
Relation is Version of Digital reproduction of "Molecular genetics of the Long QT syndrome Spencer S. Eccles Health Sciences Library.
Rights Management © Igor Splawski
Format Medium application/pdf
Format Extent 3,245,824 bytes
Identifier undthes,4049
Source Original: University of Utah Spencer S. Eccles Health Sciences Library (no longer available)
Funding/Fellowship National Institutes of Health; American Heart Association; University of Utah; Howard Hughes Medical Institue; Bristol-Myers Squibb
Master File Extent 3,245,868 bytes
ARK ark:/87278/s67s7qng
Setname ir_etd
Date Created 2012-04-24
Date Modified 2021-05-06
ID 191557
Reference URL
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