Article
Use of three DNA polymorphisms of the LDL receptor gene in the diagnosis of familial hypercholesterolemia.
Human genetics - 1 Apr 1990
Daga A, Mattioni T, Balestreri R, Coviello D A, Corte G, Bertolini S
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant metabolic disorder caused by several different mutations in the low density lipoprotein (LDL) receptor gene. This large number of different mutations, often undetectable in Southern blotting, makes it impossible directly to diagnose the...
Topics
- Alleles
- DNA Probes
- Female
- Haplotypes
- Humans
- Hyperlipoproteinemia Type II
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length
- Receptors, LDL