title: [Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene].
abstract: OBJECTIVE
  To identify the genetic defect of a patient with clotting factor X deficiency (QGZ).
  
  
  METHODS
  PCR and DNA sequencing were used to screen mutation in factor X gene. PCR primers were designed covering all the coding regions for exon and flanking intron sequences.
  
  
  RESULTS
  A single nucleotide substitution T 58G in exon 1, which caused a missense mutation Ser(AGT) 11 Arg(AGG) in signal peptide, was identified by DNA sequencing.
  
  
  CONCLUSIONS
  This nucleotide substitution might be the molecular etiology of factor X deficiency.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: J
authors.initials: J
authors.lastname: Yin
authors.forename: H
authors.initials: H
authors.lastname: Wang
authors.forename: X
authors.initials: X
authors.lastname: Wang
mesh_terms: D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D021382:Protein Sorting Signals / Q000235:genetics*; D013912:Threonine / Q000235:genetics
chemical_list: D021382:Protein Sorting Signals; D013912:Threonine; D005170:Factor X; D005998:Glycine