Article
Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia.
Molecular genetics and metabolism - 1 Dec 1998
Chakir K, Kh C, Ju M M, Shevtsov S P, Golubkov V I, Skobeleva N A, Shur Y A, Zakharova F M, Lipovetskyi B M, Konstantinov V O, Denisenko A D, Gaitskhoki V S, Schwartz E I
Abstract excerpt
Familial hypercholesterolemia (FH), a monogenic disease known to be caused by low-density lipoprotein receptor (LDLR) gene mutations, results in the development of premature atherosclerosis and coronary artery disease in affected individuals. The spectrum of LDLR gene mutations in Russia is poorl...
Topics
- Adult
- Child
- Female
- Humans
- Hyperlipoproteinemia Type II
- Male
- Middle Aged
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Receptors, LDL
- Russia