Article
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.
Human genetics - 1 Aug 1995
Ekström U, Abrahamson M, Sveger T, Lombardi P, Nilsson-Ehle P
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal semi-dominant disorder caused by defects in the low density lipoprotein receptor (LDLR) gene and is a well-documented risk factor for developing cardiovascular disease. The LDLR genes of five Swedish children with FH were examined in this study....
Topics
- Apolipoproteins
- Child
- Exons
- Genetic Testing
- Humans
- Hyperlipoproteinemia Type II
- Introns
- Lipoproteins
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Receptors, LDL
- Reference Standards
- Sweden