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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Datum:	2017
Hauptverfasser:	Olkhovych, N.V., Nedoboy, A.M., Pichkur, N.O., Gorovenko, N.H.
Format:	Artikel
Sprache:	English
Veröffentlicht:	Інститут молекулярної біології і генетики НАН України 2017
Schriftenreihe:	Вiopolymers and Cell
Schlagworte:	Biomedicine
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.

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