Chantret, Isabelle

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