Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetyl-glucosamine-1-phosphate, a precursor important for glycosylation. Mutations in the PGM3 gene have recently been identified as the cause of novel primary immunodeficiency with a hyper-IgE like syndrome. H...
Détails bibliographiques
| Publié dans: | Clinical immunology (Orlando, Fla.). - 1999. - 161(2015), 2 vom: 25. Dez., Seite 366-72
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| Auteur principal: |
Lundin, Karin E
(Auteur) |
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| Autres auteurs: |
Hamasy, Abdulrahman,
Backe, Paul Hoff,
Moens, Lotte N,
Falk-Sörqvist, Elin,
Elgstøen, Katja B,
Mørkrid, Lars,
Bjørås, Magnar,
Granert, Carl,
Norlin, Anna-Carin,
Nilsson, Mats,
Christensson, Birger,
Stenmark, Stephan,
Smith, C I Edvard |
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| Format: | Article en ligne
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| Langue: | English |
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| Publié: |
2015
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| Accès à la collection: | Clinical immunology (Orlando, Fla.)
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| Sujets: | Case Reports
Journal Article
Research Support, Non-U.S. Gov't
CDG
Congenital defects of glycosylation
N-acetylglucosamine-phosphate mutase
Primary immunodeficiency
hyper-IgE syndrome
PGM3 protein, human
EC 5.4.2.2
Phosphoglucomutase |
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