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.
Research Article|September 15 1981
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency
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Biochem J (1981) 198 (3): 677-682.
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F A Firgaira, K H Choo, R G H Cotton, D M Danks; Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency. Biochem J 15 September 1981; 198 (3): 677–682. doi: https://doi.org/10.1042/bj1980677
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