Molecular basis of dihydropteridine reductase deficiency.
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.
Smooker
P M
PM
Olive Miller Protein Laboratory, Murdoch Institute for Research into Birth Defects, Parkville, Australia.
Cotton
R G
RG
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
D004093:Dihydropteridine Reductase