title: Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants.
abstract: A family with the presence of the genes for both galactosemia and the Duarte variant is described. Galactose 1 phospho uridyl transferase has been studied not only by electrophoresis on starch gel, but also by isoelectro-focusing on thin-layer acrylamide. Normal and variant transferases were resolved into three bands, the isoelectric point of which was between 5.40 and 5.10 for the normal subjects, and between 5.25 and 4.95 for subjects with the Duarte variant.
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005693:Galactosemias / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D009713:Nucleotidyltransferases / Q000235:genetics*; D010375:Pedigree; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase