Article
Genotypic and phenotypic variation in familial hypercholesterolemia.
Arteriosclerosis (Dallas, Tex.) - 1 Jan 2000
Thompson G R, Seed M, Niththyananthan S, McCarthy S, Thorogood M
Abstract excerpt
Familial hypercholesterolemia is characterized by an increase in low density lipoprotein (LDL) cholesterol, tendon xanthomata, and premature atherosclerosis. In homozygotes, phenotypic expression of the disorder is dominated by genotypic variation at the LDL-receptor gene locus, with other influences, like gender, exerting relatively little effect. In contrast, phenotypic variation in heterozygotes is influenced...
Topics
- Age Factors
- Apolipoproteins E
- Arteriosclerosis
- Cholesterol
- Coronary Disease
- Female
- Genotype
- Heterozygote
- Humans
- Hyperlipoproteinemia Type II
- Male
- Phenotype