title: A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.
authors.affiliation: Department of Biochemistry, Wakayama Medical College, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Minatogawa
authors.forename: S
authors.initials: S
authors.lastname: Tone
authors.forename: J
authors.initials: J
authors.lastname: Allsop
authors.forename: P E
authors.initials: PE
authors.lastname: Purdue
authors.forename: Y
authors.initials: Y
authors.lastname: Takada
authors.forename: C J
authors.initials: CJ
authors.lastname: Danpur
authors.forename: R
authors.initials: R
authors.lastname: Kido
mesh_terms: 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
chemical_list: D012694:Serine; D010649:Phenylalanine; D004247:DNA; D000637:Transaminases; D000410:Alanine Transaminase; C019635:Alanine-glyoxylate transaminase