Article
Phenotypic variability in familial hypercholesterolaemia: an update.
Current opinion in lipidology - 1 Apr 2002
Jansen Angelique C M, van Wissen Sanne, Defesche Joep C, Kastelein John J P
Abstract excerpt
Heterozygous familial hypercholesterolaemia is among the most common inherited dominant disorders, and is characterized by severely elevated LDL-cholesterol levels and premature cardiovascular disease. Although the cause of familial hypercholesterolaemia is monogenic, there is a substantial variation in the onset and severity of atherosclerotic disease symptoms. Additional atherogenic risk factors of...
Topics
- Chromosome Deletion
- Genetic Variation
- Humans
- Hyperlipoproteinemia Type II
- Lipid Metabolism
- Mutation
- Phenotype
- Receptors, LDL