High specificity makes DNA screening the method of choice for diagnosis of familial hypercholesterolaemia

dc.contributor.authorKotze, M. J.en_ZA
dc.date.accessioned2011-03-18T14:57:04Z
dc.date.available2011-03-18T14:57:04Z
dc.date.issued2001
dc.descriptionCITATION: Kotze, M. J. 2001. High specificity makes DNA screening the method of choice for diagnosis of familial hypercholesterolaemia. South African Medical Journal, 91(12):1042.
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractThe diagnosis of familial hypercholesterolaemia (PH) is based on clinical findings, a family history of premature atherosclerosis and elevated plasma cholesterol levels.' Identification of heterozygous PH is complicated by the fact that biochemical parameters may overlap between normal and affected individuals, especially in children! and most adult patients do not present with cholesterol deposits in the skin and tendons. The importance of a DNA test that can provide a simple yes/no answer has now been demonstrated clearly in the article by Vergotine and colleagues in this issue of the Journal.
dc.description.versionPublisher’s version
dc.format.extent1 page
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/7166
dc.language.isoen
dc.publisherHealth & Medical Publishing Group
dc.rights.holderSouth African Medical Journal
dc.subjectHypercholesterolaemiaen_ZA
dc.titleHigh specificity makes DNA screening the method of choice for diagnosis of familial hypercholesterolaemiaen_ZA
dc.typeArticle
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