Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II
about
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
Q24314311-F012C278-D02D-4C2C-B209-57D10D54E836Q36342315-33728658-9926-4730-8776-C95D42604B99Q38089858-0975DBF5-DDFB-467F-8320-5062CB1519ACQ38823312-D8BAE619-25B9-4124-B1FB-B9C0B0CA5129Q40087921-4CFD9ABE-C14A-464C-9438-DAF1C1236EB5Q41870316-47124F53-9690-43CD-9392-FE389CA7328CQ41948069-F8689A09-38B1-45EB-97FE-CA48EA579080Q42647282-F5059A9C-E1A2-4675-ACBC-E54622D8827DQ45316420-849BD4F8-E83E-4683-A0D1-4C9534C8BCF3Q50289086-FD35ACC7-0490-4649-9CAE-700D1486F2FDQ50289087-16A07AA0-E8C8-4E12-BA62-5FDA2C0DB8F2
P2860
Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II
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
P2093
P1476
Identification of a point muta ...... infantile glycogenosis type II
@en
P2093
A J Reuser
B A Oostra
E de Graaff
H A Wisselaar
M M Hermans
P304
P356
10.1016/0006-291X(91)91906-S
P407
P577
1991-09-16T00:00:00Z