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Thromb Haemost 2012; 107(01): 187-189
DOI: 10.1160/TH11-08-0526
DOI: 10.1160/TH11-08-0526
Letters to the Editor
Identification of two de novo mutations responsible for type I antithrombin deficiency
Authors
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
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- 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.
- 9 Lane DA, Olds RJ, Conard J. et al. Pleiotropic effects of antithrombin strand 1C substitution mutations. J Clin Invest 1992; 90: 2422-2433.
- 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.
- 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.