Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa

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dc.contributor.advisorMayosi, Bonganien_ZA
dc.contributor.authorBlanckenberg, Janineen_ZA
dc.date.accessioned2014-12-26T14:17:52Z
dc.date.available2014-12-26T14:17:52Z
dc.date.issued2011en_ZA
dc.description.abstractArrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the ARVC-6 locus which is highly suggestive of linkage. Subsequently another locus (ARVC-7) and five ARVC disease genes (ARVC loci 8 to 12) have been reported. The aim of this project was to identify the disease gene that causes ARVC in this family.en_ZA
dc.identifier.apacitationBlanckenberg, J. (2011). <i>Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Department of Medicine. Retrieved from http://hdl.handle.net/11427/10130en_ZA
dc.identifier.chicagocitationBlanckenberg, Janine. <i>"Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Department of Medicine, 2011. http://hdl.handle.net/11427/10130en_ZA
dc.identifier.citationBlanckenberg, J. 2011. Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Blanckenberg, Janine AB - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the ARVC-6 locus which is highly suggestive of linkage. Subsequently another locus (ARVC-7) and five ARVC disease genes (ARVC loci 8 to 12) have been reported. The aim of this project was to identify the disease gene that causes ARVC in this family. DA - 2011 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2011 T1 - Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa TI - Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa UR - http://hdl.handle.net/11427/10130 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/10130
dc.identifier.vancouvercitationBlanckenberg J. Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Department of Medicine, 2011 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/10130en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDepartment of Medicineen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherMedicineen_ZA
dc.titleMolecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africaen_ZA
dc.typeDoctoral Thesis
dc.type.qualificationlevelDoctoral
dc.type.qualificationnamePhDen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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