title: Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.
abstract: Radioimmunoassay, immunoprecipitation, affinity chromatography and two-dimensional gel electrophoresis were used to test cultured cells from three families with dihydropteridine reductase deficiency for a catalytically incompetent product of the mutant gene. No mutant enzyme was detected in one dihydropteridine reductase-deficient homozygote or in her parents. A second homozygote and both her parents had easily detectable concentrations of inactive mutant enzyme. In a third family one parent fitted into each of these categories.
mesh_terms: D002478:Cells, Cultured; D055598:Chemical Phenomena; D002621:Chemistry; D004093:Dihydropteridine Reductase / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D014644:Genetic Variation; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D009154:Mutation; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D010641:Phenotype; D010661:Phenylketonurias; D011863:Radioimmunoassay
chemical_list: D004093:Dihydropteridine Reductase; D009247:NADH, NADPH Oxidoreductases