title: Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
authors.affiliation: Department of Pediatrics, Nagoya University School of Medicine,Nagoya, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Aoshima
authors.forename: M
authors.initials: M
authors.lastname: Kajita
authors.forename: Y
authors.initials: Y
authors.lastname: Sekido
authors.forename: S
authors.initials: S
authors.lastname: Kikuchi
authors.forename: I
authors.initials: I
authors.lastname: Yasuda
authors.forename: T
authors.initials: T
authors.lastname: Saheki
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: K
authors.initials: K
authors.lastname: Shimokata
authors.forename: T
authors.initials: T
authors.lastname: Niwa
mesh_terms: D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000235:genetics*; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D002222:Carbamoyl-Phosphate Synthase (Ammonia)