Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
https://link.springer.com/content/pdf/10.1007/s12185-022-03390-0.pdf
Reference24 articles.
1. Ratnoff OD, Colopy JE. A familial hemorrhagic trait associated with a deficiency of a clot-promoting fraction of plasma. J Clin Invest. 1955;34(4):602–13. https://doi.org/10.1172/JCI103109.
2. Schloesser M, Zeerleder S, Lutze G, Halbmayer WM, Hofferbert S, Hinney B, et al. Mutations in the human factor XII gene. Blood. 1997;90(10):3967–77.
3. Halbmayer WM, Haushofer A, Schon R, Mannhalter C, Strohmer E, Baumgarten K, et al. The prevalence of moderate and severe FXII (Hageman factor) deficiency among the normal population: evaluation of the incidence of FXII deficiency among 300 healthy blood donors. Thromb Haemost. 1994;71(1):68–72.
4. Pauer H. Factor XII deficiency is strongly associated with primary recurrent abortions. Fertil Steril. 2003;80(3):590–4. https://doi.org/10.1016/s0015-0282(03)00788-x.
5. Renne T, Pozgajova M, Gruner S, Schuh K, Pauer HU, Burfeind P, et al. Defective thrombus formation in mice lacking coagulation factor XII. J Exp Med. 2005;202(2):271–81. https://doi.org/10.1084/jem.20050664.
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1. Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report;Journal of Medical Case Reports;2023-12-07
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