title: A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Département de Pédiatrie, Hôpital des Enfants-Malades, Paris.
authors.forename: B
authors.initials: B
authors.lastname: Ségues
authors.forename: P S
authors.initials: PS
authors.lastname: Veber
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: P
authors.initials: P
authors.lastname: Calvas
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: B
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000641:Ammonia / Q000097:blood*; D003128:Coma / Q000209:etiology* / Q000235:genetics; D005091:Exons; D005260:Female; D018698:Glutamic Acid; D006801:Humans; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016364:Reading Frames; D017384:Sequence Deletion
chemical_list: D018698:Glutamic Acid; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase