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Thromb Haemost 2013; 109(06): 1183-1185
DOI: 10.1160/TH12-12-0933
DOI: 10.1160/TH12-12-0933
Letters to the Editor
Identification of a novel factor XI gene mutational event in a Dutch Caucasian family with inherited factor XI deficiency
Authors
Further Information
Publication History
Received:
19 December 2012
Accepted after major revision:
20 February 2013
Publication Date:
22 November 2017 (online)
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References
- 1 Kato A, Asakai R, Davie EW. et al. Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4. Cytogenet Cell Genet 1989; 52: 77-78.
- 2 Seligsohn U. Factor XI deficiency. Thromb Haemost 1993; 70: 68-71.
- 3 Bolton-Maggs PH, Young Wan-Yin B, McCraw AH. et al. Inheritance and bleeding in factor XI deficiency. Br J Haematol 1988; 69: 521-528.
- 4 Leiba H, Ramot B, Many A. Heredity and coagulation studies in ten families with Factor XI (plasma thromboplastin antecedent) deficiency. Br J Haematol 1965; 11: 654-665.
- 5 Asakai R, Davie EW, Chung DW. Organization of the gene for human factor XI. Biochemistry 1987; 26: 7221-7228.
- 6 Tosetto A, Castaman G, Rodeghiero F. Assessing bleeding in von Willebrand disease with bleeding score. Blood Rev 2007; 21: 89-97.
- 7 Tosetto A, Castaman G, Plug I. et al. Prospective evaluation of the clinical utility of quantitative bleeding severity assessment in patients referred for hemostatic evaluation. J Thromb Haemost 2011; 09: 1143-1148.
- 8 Tosetto A, Rodeghiero F, Castaman G. et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multi-center European study (MCMDM-1 VWD). J Thromb Haemost 2006; 04: 766-773.
- 9 Zucker M, Rosenberg N, Peretz H. et al. Point mutations regarded as missense mutations cause splicing defects in the factor XI gene. J Thromb Haemost 2011; 09: 1977-1984.
- 10 Blencowe BJ. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci 2000; 25: 106-110.
- 11 Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002; 03: 285-298.
- 12 Kravtsov DV, Wu W, Meijers JC. et al. Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Blood 2004; 104: 128-134.