Identification and characterization of six new mutations in GLB1 gene in Ukrainian patients with GM1 gangliosidosis and Morquio B disease

GM1-gangliosidosis (MIM# 230500) and mucopolysaccharidosis IV (Morquio B, MIM# 230500) are autosomal-recessive diseases, which belong to the group of lysosomal storage disorders and are caused by changes in the structure of the same gene, GLB1. The mutations in GLB1 lead to deficiency in acid β-gala...

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Bibliographic Details
Date:2016
Main Authors: Mytsyk, N.Y., Gorovenko, N.G.
Format: Article
Language:English
Published: Інститут молекулярної біології і генетики НАН України 2016
Series:Вiopolymers and Cell
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Online Access:http://dspace.nbuv.gov.ua/handle/123456789/152863
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Journal Title:Digital Library of Periodicals of National Academy of Sciences of Ukraine
Cite this:Identification and characterization of six new mutations in GLB1 gene in Ukrainian patients with GM1 gangliosidosis and Morquio B disease / N.Y. Mytsyk, N.G. Gorovenko // Вiopolymers and Cell. — 2016. — Т. 32, № 6. — С. 450-460. — Бібліогр.: 23 назв. — англ.

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Digital Library of Periodicals of National Academy of Sciences of Ukraine