title: Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
authors.affiliation: INSERM U 393, Department of Genetics, Hôpital des Enfants Malades, Paris.
authors.forename: B
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: B
authors.initials: B
authors.lastname: Segues
authors.forename: J M
authors.initials: JM
authors.lastname: Rozet
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: P
authors.initials: P
authors.lastname: Calvas
authors.forename: L
authors.initials: L
authors.lastname: de Lumley
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefond
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D017668:Age of Onset; D000641:Ammonia / Q000097:blood*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D005810:Multigene Family; D009954:Ornithine Carbamoyltransferase / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D000641:Ammonia; D009954:Ornithine Carbamoyltransferase