The spectrum of mutations in dihydropteridine reductase deficiency.
Smooker
P M
PM
Murdoch Institute for Research into Birth Defects, Parkville, Victoria, Australia.
Howells
D W
DW
Dianzani
I
I
Cotton
R G
RG
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
D011994:Recombinant Proteins; D004093:Dihydropteridine Reductase