The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia

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dc.contributor.authorKotze, M. J.en_ZA
dc.contributor.authorLangenhoven, E.en_ZA
dc.contributor.authorWarnich, Louiseen_ZA
dc.contributor.authorDu Plessis, L.en_ZA
dc.contributor.authorMarx, M. P.en_ZA
dc.contributor.authorOosthuizen, C. J. J.en_ZA
dc.contributor.authorRetief, A. E.en_ZA
dc.date.accessioned2011-03-18T14:57:21Z
dc.date.available2011-03-18T14:57:21Z
dc.date.issued1989
dc.descriptionCITATION: Kotze, M. J. et al. 1989. The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia. South African Medical Journal, 76:399-401.
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractTwo point mutations were discovered in the low-density lipoprotein genes of patients with familial hypercholesterolaemia (FH). Defective genes were cloned and/or amplified by the polymerase chain reaction (PCR) method and the DNA sequences determined. A guanine to adenine base transition in exon 4 was found to be the molecular defect in 20% of cases of FH in the Afrikaner population. A second mutation, a guanine to adenine base substitution in exon 9, was identified in two homozygous FH individuals. Restriction enzyme analysis of PCR-amplified DNA from blood and tissue samples now permits accurate diagnosis of these mutations.
dc.description.versionPublisher’s version
dc.format.extent3 pages
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/7361
dc.language.isoen
dc.publisherHealth & Medical Publishing Group
dc.rights.holderSouth African Medical Journal
dc.subjectHypercholesteremiaen_ZA
dc.titleThe identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemiaen_ZA
dc.typeArticle
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