Article
Pvu II polymorphism of low density lipoprotein receptor gene and familial hypercholesterolemia. Study of Italians.
Arteriosclerosis (Dallas, Tex.) - 1 Jan 2000
Daga A, Fabbi M, Mattioni T, Bertolini S, Corte G
Abstract excerpt
Familial hypercholesterolemia is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low density lipoprotein (LDL) level. It has been demonstrated that the disease is caused by several different mutations in the LDL receptor gene. Although early iden...
Topics
- Adolescent
- Adult
- Aged
- Alleles
- Child
- Child, Preschool
- Deoxyribonucleases, Type II Site-Specific
- Gene Frequency
- Genes
- Humans
- Hyperlipoproteinemia Type II
- Italy
- Lipoproteins, LDL
- Middle Aged
- Pedigree
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
- Receptors, Cell Surface