• Corpus ID: 36286985

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

@article{Kotze1989TheIO,
  title={The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.},
  author={Maritha J. Kotze and E. Langenhoven and Louise Warnich and L du Plessis and Munro P. Marx and C. J. J. Oosthuizen and A. E. Retief},
  journal={South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde},
  year={1989},
  volume={76 8},
  pages={
          399-401
        }
}
  • M. Kotze, E. Langenhoven, A. Retief
  • Published 21 October 1989
  • Medicine, Biology
  • South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
Two 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… 

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