title: [ASS1 mutation leading to citrullinemia I in a Chinese Han family].
abstract: OBJECTIVE
  To investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I.
  
  
  METHODS
  Genomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct DNA sequencing.
  
  
  RESULTS
  A homozygous missense mutation of c.970G>A located in exon 13, which results in p.G324S, was identified in the child. Sequencing of the parents showed a heterozygous status for the same mutation.
  
  
  CONCLUSIONS
  A missense mutation of c.970G>A in the ASS1 gene is responsible for the pathogenesis of the disease in the infant.
authors.affiliation: Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China.
authors.forename: Ping
authors.initials: P
authors.lastname: Hu
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Zhou
authors.forename: Ding-yuan
authors.initials: DY
authors.lastname: Ma
authors.forename: Yun
authors.initials: Y
authors.lastname: Sun
authors.forename: Xiao-juan
authors.initials: XJ
authors.lastname: Zhang
authors.forename: Shu-ping
authors.initials: SP
authors.lastname: Han
authors.forename: Zhang-bin
authors.initials: ZB
authors.lastname: Yu
authors.forename: Tao
authors.initials: T
authors.lastname: Jiang
authors.forename: Yu-lin
authors.initials: YL
authors.lastname: Chen
authors.forename: Zhengfeng
authors.initials: Z
authors.lastname: Xu
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001124:Argininosuccinate Synthase / Q000737:chemistry / Q000235:genetics*; D001483:Base Sequence; D020159:Citrullinemia / Q000235:genetics*; D023061:Gene Order; D006801:Humans; D007223:Infant; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011487:Protein Conformation; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D001124:Argininosuccinate Synthase