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October 1, 1993Arteriosclerosis and Thrombosis A Journal of Vascular BiologyOpen Access

Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations.

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MKMaritha J. KotzeNational Health Laboratory ServiceWVWillem J. de VilliersWestern UniversityKSKrisela SteynGeneral / Preventive / Lipids

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Kotze et al. (1993) studied this question.

synapsesocial.com/papers/6a9a50f2b5946d86254e2ad4https://doi.org/10.1161/01.atv.13.10.1460
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.1989 · 204 citations
  2. 2Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.1991 · 76 citations
  3. 3Serum lipoprotein(a) in patients heterozygous for familial hypercholesterolemia, their relatives, and unrelated control populations.1991 · 104 citations
  4. 4Apolipoprotein E polymorphism and atherosclerosis.1988 · 1,986 citations
  5. 5Relation of Serum Lipoprotein(a) Concentration and Apolipoprotein(a) Phenotype to Coronary Heart Disease in Patients with Familial Hypercholesterolemia1990 · 588 citations