Galactosemia: evidence for a structural gene mutation.
Identical immunoprecipitin reactions appeared in double immunodiffusion between rabbit anltibodies to human galactose-1-phosphate uridyl transferase and red cell preparations from both normal and galactosemic individuals. The galactosemic erythrocyte preparations quantitatively absorbed the antiboy that immunoprecipitates enzymatically active galactose-1-phosphate uridyl transferase.
D000818:Animals; D000918:Antibody Specificity; D004912:Erythrocytes / Q000201:enzymology* / Q000276:immunology; D005693:Galactosemias / Q000201:enzymology / Q000276:immunology*; D006801:Humans; D005779:Immunodiffusion; D007125:Immunogenetics; D009154:Mutation; D009713:Nucleotidyltransferases / Q000032:analysis*; D011817:Rabbits
D009713:Nucleotidyltransferases