Article
[The spectrum of mutations in the low-density lipoprotein receptor gene in the Russian population].
Genetika - 1 Oct 2008
Voevoda M I, Kulikov I V, Shakhtshneĭder E V, Maksimov V N, Pilipenko I V, Tereshchenko I P, Kobzev V F, Romashchenko A G, Nikitin Iu P
Abstract excerpt
The spectrum of mutations in the low-density lipoprotein (LDL) receptor gene was studied in a sample of hypercholesterolemia patients of Caucasoid origin from the population of Russia. The examined patients were 45 to 49-years-old and had the highest level of total serum cholesterol in this age group. Seven previously non-described mutations have been revealed in exon 9 (R410G; M412V) and in exon 12 (Y/Y576;...
Topics
- Amino Acid Substitution
- Exons
- Female
- Genetic Markers
- Genetic Predisposition to Disease
- Genetics, Population
- Humans
- Hypercholesterolemia
- Male
- Mutation, Missense
- Receptors, LDL
- Russia
- White People