Article
[LDL receptor gene analysis and phenotypic variation of familial hypercholesterolemia].
Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1994
Tada N
Abstract excerpt
Familial hypercholesterolemia, one of the most common single-gene disease in which defective catabolism of LDL is responsible for the increased plasma cholesterol and leads to the deposition of cholesterol in the arterial wall and premature coronary artery disease, is caused by inherited defects...
Topics
- Genetic Variation
- Humans
- Hyperlipoproteinemia Type II
- Mutation
- Phenotype
- Polymorphism, Restriction Fragment Length
- Receptors, LDL