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- W2018123132 abstract "Dysfibrinogenemia is a rare congenital disorder characterised by mutations in either of the three fibrinogen genes (FGA, FGB, FGG) that encode for the three polypeptide chains (Aα,Bβ,γ) of the fibrinogen molecule. It is inherited as a dominant trait and most patients are heterozygous for missense mutations which allow secretion of the mutant fibrinogen in the circulation. Many dysfibrinogenemias have been characterized at the functional level, causative mutations have been found to have deleterious effects on fibrin polymerization, fibrin crosslinking by FXIIIa as well as fibrinolysis. Most carriers of this disorder are asymptomatic, while a minority may present with either thrombotic or bleeding complications. Development of thrombosis in patients with dysfibrinogenemia is usually associated with defects that cause abnormal fibrinopeptide release, defective polymerization, impaired interaction with platelets, defective fibrinolysis and abnormal calcium binding [ [1] Mosesson M.W. Dysfibrinogenemia and thrombosis. Semin Thromb Hemost. 1999; 25: 311-319 Crossref PubMed Scopus (73) Google Scholar ]. Since most carriers are asymptomatic, it can be postulated that the presence of other inherited predisposing factors might trigger the development of thrombotic or bleeding complications in dysfibrinogenemia patients. More than 400 cases of dysfibrinogenemia have been reported so far, however there are only limited data on the coexistence of prothrombotic mutations in these patients and on the effect of double carriership on the risk for thrombosis. Reports addressing the involvement of additional predisposing genetic defects are interesting and strengthen the hypothesis that coexistence of multiple risk factors may trigger development of thrombosis among the rare dysfibrinogenemia panel." @default.
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- W2018123132 date "2010-08-01" @default.
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- W2018123132 title "Coexisting dysfibrinogenemia (γArg275His) and FV Leiden associated with thrombosis (Fibrinogen Crete)" @default.
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- W2018123132 doi "https://doi.org/10.1016/j.thromres.2010.04.011" @default.
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