Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.

Abstract

The balance between actions of procoagulant and anticoagulant factors protects organisms from bleeding and thrombosis. Thus, antithrombin deficiency increases the risk of thrombosis, and complete quantitative deficiency results in intrauterine lethality. However, patients homozygous for L99F or R47C antithrombin mutations are viable. These mutations do not… (More)
DOI: 10.1182/blood-2012-01-406207

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Cite this paper

@article{MartnezMartnez2012AmeliorationOT, title={Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.}, author={Irene Mart{\'i}nez-Mart{\'i}nez and Jos{\'e} Navarro-Fern{\'a}ndez and Alice \Ostergaard and Ricardo Guti{\'e}rrez-Gallego and Jose Padilla and Nataliya Bohdan and Antonia Mi{\~n}ano and Cristina Pascual and Constantino Mart{\'i}nez and M E de la Morena-Barrio and Sonia {\'A}guila and Shona Pedersen and S\oren Risom Kristensen and Vicente Baos Vicente and Javier Corral}, journal={Blood}, year={2012}, volume={120 4}, pages={900-4} }