Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency

Firgaira, F.A.; Choo, K.H.; Cotton, R.G.; Danks, D.M.

Biochemical Journal 198(3): 677-682


ISSN/ISBN: 0264-6021
PMID: 7326033
DOI: 10.1042/bj1980677
Accession: 043255539

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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.