CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.

@article{Kotze1997CpGHM,
  title={CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.},
  author={Maritha J. Kotze and Odell Loubser and Rochelle Thiart and J Nico P de Villiers and E. Langenhoven and Leonora Theart and Krisela Steyn and Adrian David Marais and Frederick Johan Raal},
  journal={Clinical genetics},
  year={1997},
  volume={51 6},
  pages={394-8}
}
Mutation analysis of genomic DNA samples obtained from seven unrelated South African Indians with familial hypercholesterolaemia (FH) revealed two novel and two recurrent missense mutations in the low density lipoprotein receptor (LDLR) gene. The novel mutations are transversions of C to G and A to T at nucleotide positions 1215 (N384K) and 2356 (S765C), respectively. The known mutations were detected in CpG dinucleotides at bases 661 and 682, respectively, in the mutation-rich exon 4 of the… CONTINUE READING