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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

✍ Scribed by Timo Imbach; Stephanie Grünewald; Barbara Schenk; Patricie Burda; Els Schollen; Ron A. Wevers; Jaak Jaeken; Johannis B.C. de Klerk; Eric G. Berger; Gert Matthijs; Markus Aebi; Thierry Hennet

Publisher
Springer
Year
2000
Tongue
English
Weight
284 KB
Volume
106
Category
Article
ISSN
0340-6717

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Clinical and molecular characterization
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
✍ Liangwu Sun; Erik A. Eklund; Johan L.K. Van Hove; Hudson H. Freeze; Janet A. Tho 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 1 views

## Abstract Congenital disorder of glycosylation (CDG) type Ic, the second largest subtype of CDG, is caused by mutations in human __ALG6__ (h__ALG6__). This gene encodes the α1,3‐glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid‐linked oligosaccharide precursor