Array Comparative Genomic Hybridization Identifies a Heterozygous Deletion of Exon 3 of the RYR2 Gene
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Authors
Leong, IU
Sucich, J
Prosser, DO
Skinner, JR
Crawford, JR
Higgins, C
Love, DR
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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).
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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.
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© Informa Healthcare
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