Mendelian-inherited heart disease : a gateway to understanding mechanisms in heart disease : update on work done at the University of Stellenbosch

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dc.contributor.authorBrink, P. A.
dc.contributor.authorMoolman-Smook, J. C.
dc.contributor.authorCorfield, V. A.
dc.date.accessioned2012-01-24T11:24:41Z
dc.date.available2012-01-24T11:24:41Z
dc.date.issued2009-02
dc.descriptionThe original publication is available at http://www.cvja.co.za/en_ZA
dc.description.abstractThe presence of founder effects in South Africa for many single-gene diseases, which include heart diseases such as progressive familial heart block types I and II, hypertrophic cardiomyopathy and the long QT syndromes, afforded us the opportunity to identify causal genes and associated mutations through genetic mapping and positional cloning. From finding the genes, the emphasis has shifted to elucidating how primary defects cause disease and recognising factors that could explain the often pronounced phenotypic variability seen in persons carrying the same inherited defect. In some of these diseases, sudden unexpected death has been a frequent occurrence in young, apparently healthy individuals who had not been aware that they had inherited an underlying risk. Herein, we review progress in identifying genes, mutations and risk factors associated with the diseases mentioned.en_ZA
dc.description.versionPublisher's versionen_ZA
dc.format.extentp. 57-63 : ill.
dc.identifier.citationBrink, P.A., Moolman-Smook, J.C. & Corfield, V.A. 2009. Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease. Update on work done at the University of Stellenbosch. Cardiovascular Journal of Africa, 20(1):57-63.en_ZA
dc.identifier.issn1680-0745 (online)
dc.identifier.issn1995-1892 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/19373
dc.language.isoen_ZAen_ZA
dc.publisherClinics Cardiv Publishingen_ZA
dc.rights.holderCardiovascular Journal of Africa holds the copyrighten_ZA
dc.subjectSingle-gene diseasesen_ZA
dc.subjectHeart -- Disease -- genetic aspectsen_ZA
dc.subjectGene mutationen_ZA
dc.titleMendelian-inherited heart disease : a gateway to understanding mechanisms in heart disease : update on work done at the University of Stellenboschen_ZA
dc.typeArticleen_ZA
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