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A DNA polymorphism in the human low-density lipoprotein receptor gene

dc.contributor.authorKotze, M. J.
dc.contributor.authorRetief, A. E.
dc.contributor.authorBrink, P. A.
dc.contributor.authorWeich, H. F. H.
dc.date.accessioned2011-03-18T14:59:40Z
dc.date.available2011-03-18T14:59:40Z
dc.date.issued1986-07
dc.identifier.citationKotze, M. J. et al. 1986. A DNA polymorphism in the human low-density lipoprotein receptor gene. South African medical journal, 19 July 1986: 77-79.
dc.identifier.issn2078-5135 (online) 0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/7979
dc.descriptionArticle
dc.descriptionThe original publication is available at http://www.samj.org.za
dc.description.abstractA new restriction fragment length polymorphism (RFLP) in the low-density lipoprotein receptor gene is described using the Stu I restriction endonuclease and a cDNA probe. The frequency of the two RFLP alleles was determined in 60 unrelated white subjects and 11,70/6 of them were found to be heterozygous for the polymorphism. Mendelian segregation of the RFLP was found in 3 informative families. The possible use of the RFLP in the diagnosis of familial nypercholesterolaemia in South Africa is discussed.en_ZA
dc.format.extent3 p. : ill.
dc.language.isoen_ZA
dc.publisherHealth and Medical Publishing Group -- HMPG
dc.subjectLipoproteinsen_ZA
dc.subjectGenetic polymorphismsen_ZA
dc.titleA DNA polymorphism in the human low-density lipoprotein receptor geneen_ZA
dc.typeArticle
dc.description.versionPublisher's version
dc.rights.holderThe authors


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