Article
Update on low density lipoprotein receptor mutations.
Current opinion in lipidology - 1 Apr 1998
Soutar A K
Abstract excerpt
Recent research has focused on the rapid detection of new LDL receptor gene variants and large scale screening for known mutations. Whether the nature of the mutation in the LDL receptor gene in familial hypercholesterolaemia determines clinical variability has been examined, as well as the poten...
Topics
- Databases, Factual
- Genotype
- Humans
- Hyperlipoproteinemia Type II
- Mutation
- Phenotype
- Polymorphism, Genetic
- Receptors, LDL