A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.
Minatogawa
Y
Y
Department of Biochemistry, Wakayama Medical College, Japan.
Tone
S
S
Allsop
J
J
Purdue
P E
PE
Takada
Y
Y
Danpur
C J
CJ
Kido
R
R
D000410:Alanine Transaminase / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D002384:Catalysis; D004247:DNA; D005260:Female; D006801:Humans; D006959:Hyperoxaluria / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010649:Phenylalanine / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012694:Serine / Q000235:genetics*; D000637:Transaminases
D012694:Serine; D010649:Phenylalanine; D004247:DNA; D000637:Transaminases; D000410:Alanine Transaminase; C019635:Alanine-glyoxylate transaminase