title: Molecular basis of dihydropteridine reductase deficiency.
abstract: The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described which result in aberrant splicing of DHPR transcripts. The application of the mutation identification to diagnostics and clinical treatment is discussed.
authors.affiliation: Olive Miller Protein Laboratory, Murdoch Institute for Research into Birth Defects, Parkville, Australia.
authors.forename: P M
authors.initials: PM
authors.lastname: Smooker
authors.forename: R G
authors.initials: RG
authors.lastname: Cotton
mesh_terms: D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D004093:Dihydropteridine Reductase / Q000235:genetics*; D006801:Humans; D010661:Phenylketonurias; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis
chemical_list: D004093:Dihydropteridine Reductase