Mutations in
CDG
XMEN
congenital disorders of glycosylation
oligosaccharyltransferase complex
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
14 05 2019
14 05 2019
Historique:
pubmed:
1
5
2019
medline:
27
3
2020
entrez:
1
5
2019
Statut:
ppublish
Résumé
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. We identified two patients with defective serum transferrin glycosylation and mutations in the
Identifiants
pubmed: 31036665
pii: 1817815116
doi: 10.1073/pnas.1817815116
pmc: PMC6525510
doi:
Substances chimiques
Cation Transport Proteins
0
MagT1 protein, human
0
Membrane Proteins
0
TUSC3 protein, human
0
Tumor Suppressor Proteins
0
Hexosyltransferases
EC 2.4.1.-
STT3B protein, human
EC 2.4.99.18
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
9865-9870Subventions
Organisme : NIGMS NIH HHS
ID : R01 GM043768
Pays : United States
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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