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Thromb Haemost 2005; 94(03): 678-679
DOI: 10.1160/TH05-03-0678
Case Report
Schattauer GmbH

Identification of the novel signal peptide mutation, antithrombin-Siriraj causes type-I antithrombin deficiency in Thai patients

Yingyong Chinthammitr
1   Division of Hematology, Department of Internal Medicine
,
Worrawut Chinchang
2   Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
,
Theera Ruchutrakool
1   Division of Hematology, Department of Internal Medicine
,
Vip Viprakasit
2   Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
› Author Affiliations
Further Information

Publication History

Received: 19 March 2005

Accepted after major revision: 17 June 2005

Publication Date:
07 December 2017 (online)

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  • References

  • 1 Shen MC. et al. High prevalence of antithrombin III, protein C and protein S deficiency, but no factor V Leiden mutation in venous thrombophilic Chinese patients in Taiwan.. Thromb Res 1997; 87: 377-85.
    CrossrefPubMedGoogle Scholar
  • 2 Tsuda H. et al. Screening for aetiology of thrombophilia: a high prevalence of protein S abnormality.. Ann Clin Biochem 1999; 36: 423-32.
    CrossrefPubMedGoogle Scholar
  • 3 Ho CH. et al. Causes of venous thrombosis in fifty Chinese patients.. Am J Hematol 2000; 63: 74-8.
    CrossrefPubMedGoogle Scholar
  • 4 Shen MC. et al. Protein C and protein S deficiencies are the most important risk factors associated with thrombosis in Chinese venous thrombophilic patients in Taiwan.. Thromb Res 2000; 99: 447-52.
    CrossrefPubMedGoogle Scholar
  • 5 Chen TY. et al. Incidence of thrombophilia detected in southern Taiwanese patients with venous thrombosis.. Ann Hematol 2003; 82: 114-7.
    CrossrefPubMedGoogle Scholar
  • 6 Bertina RM. Factor V Leiden and other coagulation factor mutations affecting thrombotic risk.. Clin Chem 1997; 43: 1678-83.
    PubMedGoogle Scholar
  • 7 Frosst P. et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.. Nat Genet 1995; 10: 111-3.
    CrossrefPubMedGoogle Scholar
  • 8 Lane DA. et al. Molecular genetics of antithrombin deficiency.. Blood Rev 1996; 10: 59-74.
    CrossrefPubMedGoogle Scholar
  • 9 Heijboer H. et al. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep vein thrombosis.. N Engl J Med 1990; 323: 1512-6.
    CrossrefPubMedGoogle Scholar
  • 10 van Boven HH. et al. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency.. Blood 1999; 94: 2590-4.
    PubMedGoogle Scholar
  • 11 Nakahara Y. et al. Genetic analysis in Japanese kindreds of congenital type I antithrombin deficiency causing thrombosis.. Thromb Haemost 1997; 77: 616-9.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 12 Nakahara Y. et al. Detection of two novel mutations (nt2762, exon 2, CAG to TAG, and nt2483 or 2484, exon 2, +A) in individuals with congenital type I antithrombin deficiencies.. Blood Coagul Fibrinolysis 1999; 10: 229-31.
    CrossrefPubMedGoogle Scholar
  • 13 Niiya K. et al. Two novel gene mutations in type I antithrombin deficiency.. Int J Hematol 2001; 74: 469-72.
    CrossrefPubMedGoogle Scholar
  • 14 Takenaga M. et al. A novel nonsense mutation in the antithrombin III gene (Ser365 to stop) causing deep and mesenteric venous thromboses.. Thromb Haemost 2001; 85: 570-1.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 15 Nagaizumi K. et al. Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.. Int J Hematol 2003; 78: 79-83.
    CrossrefPubMedGoogle Scholar
  • 16 Opartkiattikul N. et al. Hemostatic alterations in β-thalassemia/hemoglobin E patients.. Southeast Asian J Trop Med Public Health 1999; 30 (Suppl. 03) 86-9.
    PubMedGoogle Scholar
  • 17 Vidaud D. et al. Molecular basis for antithrombin III type I deficiency: three novel mutations located in exon IV.. Blood 1991; 78: 2305-9.
    PubMedGoogle Scholar
  • 18 http://www.med.ic.ac.uk/divisions/7/antithrom bin/index.htm
    PubMed
  • 19 Fitches AC. et al. Impaired cotranslational processing as a mechanism for type I antithrombin deficiency.. Blood 1998; 92: 4671-6.
    PubMedGoogle Scholar