title: Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
authors.affiliation: Department of Clinical Chemistry, University of Berne, Switzerland.
authors.forename: E
authors.initials: E
authors.lastname: Oppliger Leibundgut
authors.forename: S
authors.initials: S
authors.lastname: Liechti-Gallati
authors.forename: J P
authors.initials: JP
authors.lastname: Colombo
authors.forename: B
authors.initials: B
authors.lastname: Wermuth
mesh_terms: D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood; D002648:Child; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D020163:Ornithine Carbamoyltransferase Deficiency Disease
chemical_list: D000641:Ammonia