Publication

Fisher KJ, Aronson NN Jr, 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. J Biol Chem266:12105-13 1991
PubMed ID: 1904874

Records Return:  (3) Show
 
Catalog IDGenderAge at SamplingDescription
GM02057Female27 YRASPARTYLGLUCOSAMINURIA
GM00568Female18 YRASPARTYLGLUCOSAMINURIA
GM02056Male32 YRASPARTYLGLUCOSAMINURIA