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See Latest ArticlesCongenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
Human Mutation, 10/30/09
Haeuptle MA et al. – The present analysis shows that most mutations lead to substitutions of strongly conserved amino acid residues across eukaryotes. The comparison between the different forms of CDG affecting dolichol–linked oligosaccharide biosynthesis shows that the severity of the disease does not relate to the position of the mutated gene along this biosynthetic pathway.
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