These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.
    Author: Firgaira FA, Choo KH, Cotton RG, Danks DM.
    Journal: Biochem J; 1981 Sep 15; 198(3):677-82. PubMed ID: 7326033.
    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.
    [Abstract] [Full Text] [Related] [New Search]