𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and Biochemical Characterization of a Patient with Congenital Disorder of Glycosylation (CDG) IIx

✍ Scribed by Yoshiaki Miura; Stacey K.H. Tay; Marion M. Aw; Erik A. Eklund; Hudson H. Freeze


Book ID
116683552
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
157 KB
Volume
147
Category
Article
ISSN
1097-6833

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Clinical and molecular characterization
✍ Liangwu Sun; Erik A. Eklund; Johan L.K. Van Hove; Hudson H. Freeze; Janet A. Tho πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 178 KB πŸ‘ 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 Ξ±1,3‐glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid‐linked oligosaccharide precursor