✦ LIBER ✦

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

✍ Scribed by T. Marquardt; J. Denecke

Book ID: 106120269
Publisher: Springer
Year: 2003
Tongue: English
Weight: 997 KB
Volume: 162
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-002-1136-0

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## 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