Article
Fibrinogen Melbourne: a novel congenital hypodysfibrinogenemia caused by γ326Cys-Phe in the fibrinogen γ chain, presenting as massive splanchnic venous thrombosis.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2012
Cheah Chan Y, Brennan Stephen O, Kennedy Hannah, Januszewicz Elchanan H, Maxwell Ellen, Burbury Kate
Abstract excerpt
Congenital dysfibrinogenemias are characterized by structural abnormalities in fibrinogen, which may lead to abnormal function. Fibrinogen has critical roles in coagulation, platelet aggregation and fibrinolysis; accordingly, abnormal fibrinogen function can result in a clinical phenotype, which varies from asymptomatic (around 55%) to bleeding (25%) and/or thrombosis (20%). We describe a novel γ326Cys→Phe...
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