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;...
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