title: Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
authors.affiliation: Department of Pediatrics, Kumamoto University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Matsuura
authors.forename: R
authors.initials: R
authors.lastname: Hoshide
authors.forename: K
authors.initials: K
authors.lastname: Kiwaki
authors.forename: S
authors.initials: S
authors.lastname: Komaki
authors.forename: E
authors.initials: E
authors.lastname: Koike
authors.forename: F
authors.initials: F
authors.lastname: Endo
authors.forename: K
authors.initials: K
authors.lastname: Oyanagi
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: I
authors.initials: I
authors.lastname: Kato
authors.forename: K
authors.initials: K
authors.lastname: Ishikawa
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004277:DNA, Single-Stranded / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006639:Histidine / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008715:Methionine / Q000235:genetics; D017720:Molecular Epidemiology; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014364:Tryptophan / Q000235:genetics; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D004277:DNA, Single-Stranded; D007532:Isoleucine; D001224:Aspartic Acid; D006639:Histidine; D014364:Tryptophan; D001120:Arginine; D008715:Methionine; D009954:Ornithine Carbamoyltransferase; D005998:Glycine