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

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aut.relation.journalUpsala Journal of Medical Sciencesen_NZ
aut.relation.volume120en_NZ
aut.researcherHiggins, Colleen
dc.contributor.authorLeong, IUen_NZ
dc.contributor.authorSucich, Jen_NZ
dc.contributor.authorProsser, DOen_NZ
dc.contributor.authorSkinner, JRen_NZ
dc.contributor.authorCrawford, JRen_NZ
dc.contributor.authorHiggins, Cen_NZ
dc.contributor.authorLove, DRen_NZ
dc.date.accessioned2020-05-13T04:15:13Z
dc.date.available2020-05-13T04:15:13Z
dc.date.copyright2015en_NZ
dc.date.issued2015en_NZ
dc.description.abstractCatecholaminergic 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).en_NZ
dc.identifier.citationPacing and Clinical Electrophysiology 42:8, pages 1146-1154.
dc.identifier.doi10.3109/03009734.2015.1029101en_NZ
dc.identifier.issn0300-9734en_NZ
dc.identifier.issn2000-1967en_NZ
dc.identifier.urihttps://hdl.handle.net/10292/13332
dc.languageENGen_NZ
dc.publisherTaylor & Francisen_NZ
dc.relation.urihttps://www.tandfonline.com/doi/full/10.3109/03009734.2015.1029101
dc.rights© 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.
dc.rights.accessrightsOpenAccessen_NZ
dc.subjectCPVTen_NZ
dc.subjectRYR2en_NZ
dc.subjectaCGHen_NZ
dc.subjectArray comparative genomic hybridizationen_NZ
dc.subjectCatecholaminergic polymorphic ventricular tachycardiaen_NZ
dc.subjectRyanodine receptor 2 geneen_NZ
dc.titleArray Comparative Genomic Hybridization Identifies a Heterozygous Deletion of Exon 3 of the RYR2 Geneen_NZ
dc.typeJournal Article
pubs.elements-id182478
pubs.organisational-data/AUT
pubs.organisational-data/AUT/Health & Environmental Science
pubs.organisational-data/AUT/Health & Environmental Science/Applied Science
pubs.organisational-data/AUT/Health & Environmental Science/School of Science
pubs.organisational-data/AUT/PBRF
pubs.organisational-data/AUT/PBRF/PBRF Health and Environmental Sciences
pubs.organisational-data/AUT/PBRF/PBRF Health and Environmental Sciences/HA Science 2018 PBRF
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