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

1981


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

Download citation:  
Text
  |  
BibTeX
  |  
RIS

Article/Abstract emailed within 0-6 h
Payments are secure & encrypted
Powered by Stripe
Powered by PayPal

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.