Array Comparative Genomic Hybridization Identifies a Heterozygous Deletion of Exon 3 of the RYR2 Gene
Array Comparative Genomic Hybridization Identifies a Heterozygous Deletion of Exon 3 of the RYR2 Gene
Date
2015
Authors
Leong, IU
Sucich, J
Prosser, DO
Skinner, JR
Crawford, JR
Higgins, C
Love, DR
Supervisor
Item type
Journal Article
Degree name
Journal Title
Journal ISSN
Volume Title
Publisher
Taylor & Francis
Abstract
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a heritable cardiac disorder characterized by life-threatening ventricular tachycardia caused by exercise or acute emotional stress. The standard diagnostic screening involves Sanger-based sequencing of 45 of the 105 translated exons of the RYR2 gene, and copy number changes of a limited number of exons that are detected using multiplex ligation-dependent probe amplification (MLPA).
Description
Keywords
CPVT , RYR2 , aCGH , Array comparative genomic hybridization , Catecholaminergic polymorphic ventricular tachycardia , Ryanodine receptor 2 gene
Source
Pacing and Clinical Electrophysiology 42:8, pages 1146-1154.
Publisher's version
Rights statement
© Informa Healthcare
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