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Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient

✍ Scribed by A. Rimella-Le-Huu; H. Henry; I. Kern; S. Hanquinet; E. Roulet-Perez; C. J. Newman; A. Superti-Furga; L. Bonafé; D. Ballhausen

Publisher
Springer
Year
2008
Tongue
English
Weight
274 KB
Volume
31
Category
Article
ISSN
0141-8955

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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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A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). In this work, a new mutation in the ALG3 gene causing atypical splicing is described with characterization of expression le