English
日本語
signup
login
Repository
Search
Annotators
Editors
Evaluators
NEWS
Documentation
>
top
>
projects
>
DisGeNET
> docs
DisGeNET
Documents
(356,316)
JSON
TSV
source DB
source ID
text
size
updated at
# proj.
# Ann.
updated_at
PubMed
12626422
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I
1.74 KB
2019-05-30
53
3
-
PubMed
8724135
Transcription of the beta-galactoside alpha 2,6-sialyltransferase gene in B lymphocytes is directed
1.73 KB
2019-05-30
53
18
-
PubMed
16377754
A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan su
1.83 KB
2019-05-30
52
18
-
PubMed
16192407
Phenotypic changes induced by expression of beta-galactoside alpha2,6 sialyltransferase I in the hum
1.83 KB
2019-05-30
52
24
-
PubMed
17172260
Crystal structure of mammalian alpha1,6-fucosyltransferase, FUT8. Mammalian alpha1,6-fucosyltransfer
1.58 KB
2019-05-30
50
6
-
PubMed
17251309
Effect of mannose chain length on targeting of glucocerebrosidase for enzyme replacement therapy of
1.96 KB
2019-05-30
50
3
-
PubMed
22798143
Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced plu
1.71 KB
2019-08-21
49
6
-
PubMed
16046395
Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a prima
1.52 KB
2015-11-19
49
12
-
PubMed
18490429
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is c
1.74 KB
2019-05-30
48
15
-
PubMed
15958417
Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanop
1.83 KB
2019-05-30
48
6
-
Page 7