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Thromb Haemost 2012; 107(01): 187-189
DOI: 10.1160/TH11-08-0526
Letters to the Editor
Schattauer GmbH

Identification of two de novo mutations responsible for type I antithrombin deficiency

Christelle Orlando
1   Department of Haematology, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium
,
Willy Lissens
2   Centre for Medical Genetics, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium
,
Daniele Hasaerts
3   Department of Paediatric Neurology, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium
,
Kristin Jochmans
1   Department of Haematology, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium
› Author Affiliations
Further Information

Publication History

Received: 02 August 2011

Accepted after minor revision: 26 October 2011

Publication Date:
20 November 2017 (online)

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  • References

  • 1 Tait RC, Walker ID, Perry DJ. et al. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol 1994; 87: 106-112.
    CrossrefPubMedGoogle Scholar
  • 2 Lane DA, Bayston T, Olds RJ. et al. Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1997; 77: 197-211.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 3 Bock SC, Harris JF, Balazs I. et al. Assignment of the human antithrombin III structural gene to chromosome 1q23–25. Cytogenet Cell Genet 1985; 39: 67-69.
    CrossrefPubMedGoogle Scholar
  • 4 Luxembourg B, Delev D, Geisen C. et al. Molecular basis of antithrombin deficiency. Thromb Haemost 2011; 105: 635-646.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 5 Andrew M, Paes B, Milner R. et al. Development of the human coagulation system in the full-term infant. Blood 1987; 70: 165-172.
    PubMedGoogle Scholar
  • 6 Chowdhury V, Olds RJ, Lane DA. et al. Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening. Br J Haematol 1993; 84: 656-661.
    CrossrefPubMedGoogle Scholar
  • 7 Arnaldi LA, Pretti FA, Zampieri JP. et al. Anti-thrombin deficiency in Brazilian patients with venous thrombosis: molecular characterization of a single splice site mutation, an insertion and a de novo point mutation. Thromb Res 2001; 104: 397-403.
    CrossrefPubMedGoogle Scholar
  • 8 Berg LP, Grundy CB, Thomas F. et al. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics 1992; 13: 1359-1361.
    CrossrefPubMedGoogle Scholar
  • 9 Lane DA, Olds RJ, Conard J. et al. Pleiotropic effects of antithrombin strand 1C substitution mutations. J Clin Invest 1992; 90: 2422-2433.
    CrossrefPubMedGoogle Scholar
  • 10 Martinez-Martinez I, Ordonez A, Navarro-Fernandez J. et al. Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation. Haematologica 2010; 95: 1358-1365.
    CrossrefPubMedGoogle Scholar
  • 11 Tarantino MD, Curtis SM, Johnson GS. et al. A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia. Am J Hematol 1999; 60: 126-129.
    CrossrefPubMedGoogle Scholar