Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
Abstract
Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent a family of genetic diseases with variable clinical presentations. Common to all types of CDG characterized to date is a defective Asn-linked glycosylation caused by enzymatic defects of N-glycan synthesis. Previously, we have identified a mutation in the ALG6 α1,3 glucosyltransferase gene as the cause of CDG-Ic in four related...
Paper Details
Title
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
Published Date
Apr 19, 2000
Journal
Volume
106
Issue
5
Pages
538 - 545
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