A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. [electronic resource]
Producer: 20030514Description: 9962-71 p. digitalISSN:- 0021-9258
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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