Congenital disorder of glycosylation Ic in patients of Indian origin
β Scribed by J.W Newell; N.-S Seo; G.M Enns; M McCraken; J.F Mantovani; H.H Freeze
- Book ID
- 117735532
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 536 KB
- Volume
- 79
- Category
- Article
- ISSN
- 1096-7192
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π SIMILAR VOLUMES
Congenital Disorder of Glycosylation (CDG) type Ic is caused by mutations in ALG6. This gene encodes an Ξ±1,3 glucosyltransferase used for synthesis of the lipid linked oligosaccharide (LLO) precursor of the protein N -glycosylation pathway. CDG-Ic patients have moderate to severe psychomotor retarda
## 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±1,3βglucosyltransferase that catalyzes transfer of the first glucose residue to the lipidβlinked oligosaccharide precursor