Перегляд за автором "Nedoboy, A.M."

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  • Analysis of mutations in GBA gene in Ukrainian patients with Gaucher disease 
    Olkhovych, N.V.; Nedoboy, A.M.; Pichkur, N.O.; Gorovenko, N.H. (Вiopolymers and Cell, 2017)
    Gaucher disease (MIM 230800) is the most common storage disorder, caused by hereditary deficiency of the lysosomal enzyme of glucocerebrosidase (EC 3.2.1.45). Human glucocerebrosidase gene (GBA) is mapped to the 1q21 locus, ...