A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. [electronic resource]
- The Journal of biological chemistry Mar 2003
- 9962-71 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-9258
10.1074/jbc.M211950200 doi
Alleles Amino Acid Sequence Base Sequence Blotting, Northern Blotting, Western Carbohydrate Metabolism, Inborn Errors--diagnosis Cells, Cultured Chloroform--pharmacology Chromatography, Thin Layer Codon, Terminator DNA Mutational Analysis DNA, Complementary--metabolism Fibroblasts--metabolism Glucosyltransferases--chemistry Glycosylation Humans Lipids--chemistry Lymphocytes--metabolism Molecular Sequence Data Mutation Oligosaccharides--chemistry RNA, Messenger--metabolism Signal Transduction Time Factors