Zobrazeno 1 - 3
of 3
pro vyhledávání: '"N. Y. Mytsyk"'
Publikováno v:
The Ukrainian Biochemical Journal, Vol 87, Iss 3, Pp 107-115 (2015)
Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete fai
Externí odkaz:
https://doaj.org/article/18551673abcf4fc7b66bc245d4b33cde
Publikováno v:
Cytology and Genetics. 51:263-267
Mutation analysis of gene GLB1 in 26 patients from different regions of Ukraine diagnosed with GM1-gangliosidosis identified 15 pathogenic mutations. The most common was missense mutation p.His281Tyr (c.841C>T) in exon 8, which was found in at least
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aad6424f8b58ee6253e37becfd887835
https://doi.org/10.3103/s0095452717040041
https://doi.org/10.3103/s0095452717040041
Autor:
N. Y. Mytsyk, N. G. Gorovenko
Publikováno v:
Biopolymers and Cell, Vol 32, Iss 6, Pp 450-460 (2016)
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 m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6780cd29d5b9c1f105b40e6e6bd4793a
https://doi.org/10.7124/bc.00093c
https://doi.org/10.7124/bc.00093c