Article
Molecular genetic diagnosis of a family with hypercholesterolemia by a mismatched PCR-RFLP method for genotyping single base substitution of the LDL receptor gene.
Japanese heart journal - 1 Sept 1998
Yamaki E, Hirayama T, Wu L L, Hopkins P N, Williams R R, Emi M
Abstract excerpt
Plasma lipid and lipoprotein levels reflect in part the influence of relevant genetic loci. Defects at some of these loci account for specific types of dyslipoproteinemia occurring with regularity among family members. In the course of familial investigations of coronary artery disease, we identi...
Topics
- Adolescent
- Adult
- Aged
- Base Pair Mismatch
- Cholesterol, LDL
- Coronary Disease
- Genotype
- Humans
- Hyperlipoproteinemia Type II
- Middle Aged
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Receptors, LDL