title: [Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
abstract: OBJECTIVE
  To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient.
  
  
  METHODS
  Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.
  
  
  RESULTS
  A missense mutation E122G in the conserved residue of exon 4 was identified   which is unreported before.
  
  
  CONCLUSIONS
  The E122G mutation in human OTC gene may cause late onset OTC deficiency.
authors.affiliation: Da-An Gene Diagnostic Center, Sun Yat-Sen University, Guangzhou, Guangdong, PR China.
authors.forename: Hua
authors.initials: H
authors.lastname: Gao
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Zong-he
authors.initials: ZH
authors.lastname: Yan
authors.forename: Mei-hua
authors.initials: MH
authors.lastname: Jiang
authors.forename: De-rong
authors.initials: DR
authors.lastname: Rui
authors.forename: Yun-shao
authors.initials: YS
authors.lastname: He
mesh_terms: D017668:Age of Onset; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D009954:Ornithine Carbamoyltransferase / Q000737:chemistry / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017433:Protein Structure, Secondary
chemical_list: D004247:DNA; D009954:Ornithine Carbamoyltransferase