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ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levelsZWARTSA, K. Y; CLEE, S. M; KASTELEIN, J. J. P et al.Clinical genetics. 2002, Vol 61, Num 2, pp 115-125, issn 0009-9163Article

Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor geneKOTZE, M. J; THIART, R; LOUBSER, O et al.Human genetics. 1996, Vol 98, Num 4, pp 476-478, issn 0340-6717Article

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiencyBROOKS-WILSON, A; MARCIL, M; LOUBSER, O et al.Nature genetics. 1999, Vol 22, Num 4, pp 336-345, issn 1061-4036Article

A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemiaKOTZE, M. J; DE VILLIERS, J. N. P; LOUBSER, O et al.Human genetics. 1997, Vol 100, Num 1, pp 101-103, issn 0340-6717Article

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestryLOUBSER, O; MARAIS, D; MARITZ, F et al.Clinical genetics. 1999, Vol 55, Num 5, pp 340-345, issn 0009-9163Article

Familial hypercholesterolemia : potential diagnostic value of mutation screening in a pediatric population of South africaKOTZE, M. J; PEETERS, A. V; RAAL, F. J et al.Clinical genetics. 1998, Vol 54, Num 1, pp 74-78, issn 0009-9163Article

CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African IndiansKOTZE, M. J; LOUBSER, O; THIART, R et al.Clinical genetics. 1997, Vol 51, Num 6, pp 394-398, issn 0009-9163Article

The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery diseaseCLEE, S. M; LOUBSER, O; COLLINS, J et al.Clinical genetics. 2001, Vol 60, Num 4, pp 293-300, issn 0009-9163Article

Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and AfrikanersKOTZE, M. J; LANGENHOVEN, E; THEART, L et al.SAMJ. South African medical journal. 1995, Vol 85, Num 5, pp 357-361, issn 0256-9574Article

Screening for mutations in exon 4 of LDL receptor gene : identification of a new deletion mutationTHEART, L; KOTZE, M. J; LANGENHOVEN, B et al.Journal of medical genetics. 1995, Vol 32, Num 5, pp 379-382, issn 0022-2593Article

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