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...
Gespeichert in:
| Datum: | 2017 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | English |
| Veröffentlicht: |
Інститут молекулярної біології і генетики НАН України
2017
|
| Schriftenreihe: | Вiopolymers and Cell |
| Schlagworte: | |
| Online Zugang: | http://dspace.nbuv.gov.ua/handle/123456789/152889 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| Назва журналу: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| Zitieren: | 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. |