Article
Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling.
Clinical genetics - 1 Jun 1993
Kotze M J, Davis H J, Bissbort S, Langenhoven E, Brusnicky J, Oosthuizen C J
Abstract excerpt
A specific mutation in the low-density lipoprotein receptor (LDLR) gene causes familial hypercholesterolemia (FH) in about 60% of Afrikaner FH heterozygotes. Molecular diagnosis of this so-called FH Afrikaner-1 mutation was performed in a family with the disease. One individual did not develop co...
Topics
- Adult
- Aged
- Aged, 80 and over
- Apolipoprotein A-I
- Apolipoproteins A
- Apolipoproteins B
- Child
- Cholesterol, HDL
- Genetic Counseling
- Genetic Variation
- Genotype
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Pedigree
- Phenotype
- Receptors, LDL