Galactosemia: Evidence for a Structural Gene Mutation

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Science  14 May 1971:
Vol. 172, Issue 3984, pp. 727-728
DOI: 10.1126/science.172.3984.727


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.