A DNA polymorphism in the human low-density lipoprotein receptor gene
dc.contributor.author | Kotze, M. J. | |
dc.contributor.author | Retief, A. E. | |
dc.contributor.author | Brink, P. A. | |
dc.contributor.author | Weich, H. F. H. | |
dc.date.accessioned | 2011-03-18T14:59:40Z | |
dc.date.available | 2011-03-18T14:59:40Z | |
dc.date.issued | 1986-07 | |
dc.description | Article | |
dc.description | The original publication is available at http://www.samj.org.za | |
dc.description.abstract | A 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.description.version | Publisher's version | |
dc.format.extent | 3 p. : ill. | |
dc.identifier.citation | Kotze, 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.issn | 2078-5135 (online) 0256-9574 (print) | |
dc.identifier.uri | http://hdl.handle.net/10019.1/7979 | |
dc.language.iso | en_ZA | |
dc.publisher | Health and Medical Publishing Group -- HMPG | |
dc.rights.holder | The authors | |
dc.subject | Lipoproteins | en_ZA |
dc.subject | Genetic polymorphisms | en_ZA |
dc.title | A DNA polymorphism in the human low-density lipoprotein receptor gene | en_ZA |
dc.type | Article |
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