Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163—-Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference37 articles.
1. Aspartylglycosaminuria: An inborn error of glycoprotein catabolism
2. Lysosomal degradation of Asn‐linked glycoproteins
3. Glycoasparagine metabolites in patients with aspartylglycosaminuria: comparison between english and finnish patients with special reference to storage materials
4. ASPARTYLGLYCOSAMINURIA
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