Article
[Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher's disease].
Biomeditsinskaia khimiia - 1 Jan 2000
Bukina T M, Tsvetkova I V
Abstract excerpt
Gaucher disease (GD) is the most frequent lysosomal storage disease presenting in all populations. Mutations in the acid beta-D-glucosidase gene (GBA) cause development of GD, resulting in a decrease or full loss of activity of this enzyme. We report here the results of the molecular-genetic analysis in 68 Russian GD patients from 65 families with the three types of the disease. We have identified 126 mutation...
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