Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.

@article{Katona2014FactorXD,
  title={Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.},
  author={Eva M Katona and L{\'a}szl{\'o} Muszbek and Katrien Devreese and Kitti Bernadett Kov{\'a}cs and Zsuzsanna Bereczky and Marloes Jonkers and A H Shemirani and Veerle Mondelaers and Antonius A. M. Ermens},
  journal={Haemophilia : the official journal of the World Federation of Hemophilia},
  year={2014},
  volume={20 1},
  pages={114-20}
}
Coagulation factor XIII (FXIII) exists as heterotetramer (FXIII-A₂B₂) in the plasma and as dimer (FXIII-A₂) in cells. Activated FXIII mechanically stabilizes fibrin and protects it from fibrinolysis by cross-linking fibrin chains and α₂-plasmin inhibitor to fibrin. FXIII is essential to maintaining haemostasis, and its deficiency causes severe bleeding diathesis. Due to improper laboratory practices, FXIII deficiency is considered the most under-diagnosed bleeding disorder. The aim of this… CONTINUE READING

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