A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
Ashida
A
A
Department of Biochemistry, Osaka Medical College, Japan.
Owada
M
M
Hatakeyama
K
K
D000429:Alcohol Oxidoreductases / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency; D002478:Cells, Cultured; D017931:DNA Primers; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D019761:Phosphorus-Oxygen Lyases
D017931:DNA Primers; D001708:Biopterins; D010649:Phenylalanine; D000429:Alcohol Oxidoreductases; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase; C003402:sapropterin