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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| Datum: | 2016 |
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| Hauptverfasser: | , |
| Format: | Artikel |
| Sprache: | English |
| Veröffentlicht: |
Інститут молекулярної біології і генетики НАН України
2016
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| Schriftenreihe: | Вiopolymers and Cell |
| Schlagworte: | |
| Online Zugang: | http://dspace.nbuv.gov.ua/handle/123456789/152863 |
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| Назва журналу: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| Zitieren: | 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. |