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Coagulation factor XIII polymorphisms and the thrombotic risk Volume 6, issue 2, Mars - Avril 2000

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Coagulation factor XIII (FXIII) is a plasma protein which plays an essential role of cross-linking fibrin in the final stages of blood coagulation pathways. It is well known that homozygous FXIII deficiency due to detrimental mutations of the gene results in a severe bleeding diathesis, defective wound healing and a high risk of miscarriage. Recently, several groups have searched for polymorphisms in the genes coding for FXIII and studied their possible associations with thrombosis. The Val34Leu in the A subunit of FXIII might be involved in arterial and venous thrombosis, the 34Leu allele being found protective against thrombosis. Conversely, the 34Leu allele might be a risk factor for primary intracerebral bleeding.