title: Novel human pathological mutations. Gene symbol: OTC. Disease: ornithine transcarbamylase deficiency.
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Taipei, Taiwan, ROC. lxc46199@ms37.hinet.net
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.forename: Hsin-Yi
authors.initials: HY
authors.lastname: Lin
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000201:enzymology* / Q000235:genetics*
chemical_list: D003062:Codon; D009954:Ornithine Carbamoyltransferase