Analysis of mutations in GBA gene in Ukrainian patients with Gaucher disease

Analysis of mutations in GBA gene in Ukrainian patients with Gaucher disease

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, it is 7.5 kb long and consists of 11 exons. According to human gene mutation...

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Bibliographic Details
Date:2017
Main Authors: Olkhovych, N.V., Nedoboy, A.M., Pichkur, N.O., Gorovenko, N.H.
Format: Article
Language:English
Published: Інститут молекулярної біології і генетики НАН України 2017
Series:Вiopolymers and Cell
Subjects:
Biomedicine
Online Access:http://dspace.nbuv.gov.ua/handle/123456789/152889
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Journal Title:Digital Library of Periodicals of National Academy of Sciences of Ukraine
Cite this:Analysis of mutations in GBA gene in Ukrainian patients with Gaucher disease / N.V. Olkhovych, A.M. Nedoboy, N.O. Pichkur, N.H. Gorovenko // Вiopolymers and Cell. — 2017. — Т. 33, № 1. — С. 34-47. — Бібліогр.: 26 назв. — англ.

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Digital Library of Periodicals of National Academy of Sciences of Ukraine

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http://dspace.nbuv.gov.ua/handle/123456789/152889

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