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- Amino Acid Sequence
- Brain
- Carbohydrate Metabolism, Inborn Errors
- Cells, Cultured
- Child, Preschool
- Chromosome Mapping
- Congenital Disorders of Glycosylation
- DNA Mutational Analysis
- Female
- Fibroblasts
- Glucosyltransferases
- Glycosylation
- Homozygote
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- Mutation
- biosynthesis
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