title: A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U 393 Hôpital des Enfants-Malades, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: S
authors.initials: S
authors.lastname: Strautnieks
authors.forename: B
authors.initials: B
authors.lastname: Segues
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D000595:Amino Acid Sequence; D000641:Ammonia / Q000097:blood; D001483:Base Sequence; D002648:Child; D004277:DNA, Single-Stranded / Q000235:genetics; D005091:Exons; D017809:Fatal Outcome; D005796:Genes; D006801:Humans; D007223:Infant; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D008297:Male; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D011110:Polymorphism, Genetic; D016415:Sequence Alignment
chemical_list: D004277:DNA, Single-Stranded; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase