title: The spectrum of mutations in dihydropteridine reductase deficiency.
authors.affiliation: Murdoch Institute for Research into Birth Defects, Parkville, Victoria, Australia.
authors.forename: P M
authors.initials: PM
authors.lastname: Smooker
authors.forename: D W
authors.initials: DW
authors.lastname: Howells
authors.forename: I
authors.initials: I
authors.lastname: Dianzani
authors.forename: R G
authors.initials: RG
authors.lastname: Cotton
mesh_terms: D000595:Amino Acid Sequence; D002478:Cells, Cultured; D003001:Cloning, Molecular; D004093:Dihydropteridine Reductase / Q000235:genetics* / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007700:Kinetics; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D010661:Phenylketonurias; D017354:Point Mutation; D011994:Recombinant Proteins / Q000378:metabolism
chemical_list: D011994:Recombinant Proteins; D004093:Dihydropteridine Reductase