title: [Type I antithrombin deficiency due to 13389G deletion in antithrombin gene].
abstract: OBJECTIVE
  To identify the gene mutation of a kindred with type I antithrombin deficiency.
  
  
  METHODS
  All of the seven exons and intron-exon boundaries of antithrombin gene were analysed by PCR and direct sequencing of amplified PCR products from the propositus.
  
  
  RESULTS
  A 13389G deletion in exon 6 was characterized in propositus, and this mutation led to frameshift.
  
  
  CONCLUSIONS
  This is a novel mutation, which can cause antithrombin deficiency and thrombosis.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Qihua
authors.initials: Q
authors.lastname: Fu
authors.forename: Xianguo
authors.initials: X
authors.lastname: Xu
authors.forename: Qiulan
authors.initials: Q
authors.lastname: Ding
authors.forename: Yiqun
authors.initials: Y
authors.lastname: Hu
authors.forename: Xuefeng
authors.initials: X
authors.lastname: Wang
authors.forename: Hongli
authors.initials: H
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000991:Antithrombins / Q000172:deficiency* / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D000991:Antithrombins; D004247:DNA