Galactosemia: Evidence for a Structural Gene Mutation

Abstract
Identical immunoprecipitin reactions appeared in double immunodiffusion between rabbit antibodies to human galactose-1-phosphate uridyl transferase and red cell preparations from both normal and galactosemic individuals. The galactosemic erythrocyte preparations quantitatively absorbed the antibody that immunoprecipitates enzymatically active galactose-1-phosphate uridyl transferase.