Array Comparative Genomic Hybridization Identifies a Heterozygous Deletion of Exon 3 of the RYR2 Gene

Leong, IU
Sucich, J
Prosser, DO
Skinner, JR
Crawford, JR
Higgins, C
Love, DR
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Journal Article
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Taylor & Francis

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).

CPVT , RYR2 , aCGH , Array comparative genomic hybridization , Catecholaminergic polymorphic ventricular tachycardia , Ryanodine receptor 2 gene
Pacing and Clinical Electrophysiology 42:8, pages 1146-1154.
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