Article
Molecular genetics of familial hypercholesterolemia in Israel.
Human genetics - 1 Nov 1996
Reshef A, Nissen H, Triger L, Hensen T S, Eliav O, Schurr D, Safadi R, Gare M, Leitersdorf E
Abstract excerpt
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a multitude of low density lipoprotein receptor (LDL-R) mutations. The purpose of the current investigation was to define the spectrum of mutations causing FH in Israel and determine their relative distribution among di...
Topics
- Arabs
- Blotting, Southern
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Humans
- Hyperlipoproteinemia Type II
- Israel
- Jews
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, LDL