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Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih

✍ Scribed by Torsten Stölting; Heymut Omran; Anne Erlekotte; Jonas Denecke; Janine Reunert; Thorsten Marquardt


Book ID
116988683
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
456 KB
Volume
98
Category
Article
ISSN
1096-7192

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✍ 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