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Letter

Nature Genetics 28, 73–76 (1 May 2001) | doi:10.1038/ng0501-73

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

Torben L|[uuml]|bke , Thorsten Marquardt , Amos Etzioni , Enno Hartmann , Kurt von Figura & Christian K|[ouml]|rner

Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of glycoproteins is defective due to mutations in genes required for the assembly of lipid-linked oligosaccharides, their transfer to nascent glycoproteins (CDG-I) or the processing of protein-bound glycans (CDG-II). Previously' a defect in the GDP-fucose import into the lumen of the Golgi was identified in a person with CDG (A.C.) with a general deficiency of fucosyl residues in glycoproteins.