Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

Item
http://www.wikidata.org/entity/Q28299767
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type IIA cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.Enzymatic and molecular strategies to diagnose Pompe disease.α-Glucosidases and α-1,4-glucan lyases: structures, functions, and physiological actions.Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.Carboxyl group of residue Asp647 as possible proton donor in catalytic reaction of alpha-glucosidase from Schizosaccharomyces pombe.Glycogen storage disease type II (GAA)Defective GAA does not hydrolyze alpha(1;4) linkages in lysosomal glycogenDefective GAA does not hydrolyze alpha(1;6) linkages in lysosomal glycogen
P2860

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

Item
http://www.wikidata.org/entity/Q28299767
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Identification of a point muta ...... infantile glycogenosis type II
@ast
Identification of a point muta ...... infantile glycogenosis type II
@en
Identification of a point muta ...... infantile glycogenosis type II
@nl
type
label
Identification of a point muta ...... infantile glycogenosis type II
@ast
Identification of a point muta ...... infantile glycogenosis type II
@en
Identification of a point muta ...... infantile glycogenosis type II
@nl
prefLabel
Identification of a point muta ...... infantile glycogenosis type II
@ast
Identification of a point muta ...... infantile glycogenosis type II
@en
Identification of a point muta ...... infantile glycogenosis type II
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Identification of a point muta ...... infantile glycogenosis type II
@en
P2093
P304
P31
P356
10.1016/0006-291X(91)91906-S
P407
P433
P478
P577
P698