A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

Carbohydrate-deficient glycoprotein syndromes (CDGS) type I are a group of genetic diseases characterized by a deficiency of N-linked protein glycosylation in the endoplasmic reticulum. The majority of these CDGS patients have phosphomannomutase (PMM) deficiency (type A). This enzyme is required for...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Burda, P, Borsig, L, de Rijk-van Andel, J, Wevers, R, Jaeken, J, Carchon, H, Berger, E G, Aebi, M
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1998
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC508925/
https://ncbi.nlm.nih.gov/pubmed/9710431
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