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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 (655.2Kb)
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http://hdl.handle.net/10292/13332
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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).
Keywords
CPVT; RYR2; aCGH; Array comparative genomic hybridization; Catecholaminergic polymorphic ventricular tachycardia; Ryanodine receptor 2 gene
Date
2015
Source
Pacing and Clinical Electrophysiology 42:8, pages 1146-1154.
Item Type
Journal Article
Publisher
Taylor & Francis
DOI
10.3109/03009734.2015.1029101
Publisher's Version
https://www.tandfonline.com/doi/full/10.3109/03009734.2015.1029101
Rights Statement
© Informa Healthcare This is an open-access article distributed under the terms of the CC-BY-NC-ND 3.0 License which permits users to download and share the article for non-commercial purposes, so long as the article is reproduced in the whole without changes, and provided the original source is credited.

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