𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation

✍ Scribed by Micha A. Haeuptle; François M. Pujol; Christine Neupert; Bryan Winchester; Alexander J. Kastaniotis; Markus Aebi; Thierry Hennet


Book ID
113422437
Publisher
American Society of Human Genetics
Year
2008
Tongue
English
Weight
835 KB
Volume
82
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Deficiency of UDP-GlcNAc:Dolichol Phosph
✍ Xiaohua Wu; Jeffrey S. Rush; Denise Karaoglu; Donna Krasnewich; Mark S. Lubinsky 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB

Defects in the assembly of dolichol-linked oligosaccharide or its transfer to proteins result in severe, multi-system human diseases called Type I congenital disorders of glycosylation. We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate N-acetyl-