Article
[Molecular genetic causes of familial hypercholesterolemia].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke - 30 Oct 1993
Leren T P
Abstract excerpt
Familial hypercholesterolemia (FH) is characterized by autosomal dominantly inherited hypercholesterolemia, xanthomas and premature coronary heart disease. The disease is caused by defective cell surface low density lipoprotein (LDL) receptors. This paper reviews the molecular defects underlying...
Topics
- Humans
- Hyperlipoproteinemia Type II
- Molecular Biology
- Mutation
- Receptors, LDL
