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Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig

✍ Scribed by Erik A. Eklund; John W. Newell; Liangwu Sun; Neung-Seon Seo; Gulay Alper; Jessica Willert; Hudson H. Freeze

Book ID: 116987577
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 540 KB
Volume: 84
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2004.09.014

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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

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