Article
Genetic studies of Russian patients with amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2015
Lysogorskaia Elena V, Abramycheva Nataliya Yu, Zakharova Mariya N, Stepanova Mariya S, Moroz Anna A, Rossokhin Alexey V, Illarioshkin Sergey N
Abstract excerpt
Our objective was to search for mutations in genes SOD1, TARDBP, C9orf72, ANG, ATXN2 and VEGF in Russian patients with amyotrophic lateral sclerosis (ALS). A group of 208 Russian patients with ALS was examined. Molecular genetic analysis was conducted using direct sequencing, fragment analysis, and real-time PCR. We found eight different point mutations in the SOD1 gene, with the frequency of mutations being 50%...
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