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Review 1. Molecular mechanisms of complement component C6 deficiency; a hypervariable exon 6 region responsible for three of six reported defects.

Authors: A Orren
Journal: Clin Exp Immunol Date: 2000-02 Impact factor: 4.330

2. The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis.

Authors: O C Stine; K D Smith
Journal: Am J Hum Genet Date: 1990-03 Impact factor: 11.025

3. Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

Authors: A F Grobler-Rabie; D K Brebner; S Vandenplas; G Wallis; R Dalgleish; R E Kaufman; A J Bester; C G Mathew; C D Boyd
Journal: J Med Genet Date: 1985-06 Impact factor: 6.318

4. Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.

Authors: G Wallis; P Beighton; C Boyd; C G Mathew
Journal: J Med Genet Date: 1986-10 Impact factor: 6.318

5. The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

Authors: J C Moolman-Smook; W J De Lange; E C Bruwer; P A Brink; V A Corfield
Journal: Am J Hum Genet Date: 1999-11 Impact factor: 11.025

6. Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect.

Authors: P A Brink; L T Steyn; G A Coetzee; D R Van der Westhuyzen
Journal: Hum Genet Date: 1987-09 Impact factor: 4.132

Blood group gene frequencies. An indication of the genetic constitution of population samples in Cape Town.

Review 1. Molecular mechanisms of complement component C6 deficiency; a hypervariable exon 6 region responsible for three of six reported defects.

2. The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis.

3. Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

4. Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.

5. The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

6. Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect.

7. C7 M/N protein polymorphism typing applied to inherited deficiencies of human complement proteins C6 and C7.

8. A 40-50kDa Glycoprotein Associated with Mucus is Identified as α-1-Acid Glycoprotein in Carcinoma of the Stomach.

9. Genome-wide analysis of the structure of the South African Coloured Population in the Western Cape.

10. Patterns of African and Asian admixture in the Afrikaner population of South Africa.