Fibrinogen BOE II: dysfibrinogenemia with bleeding and defective thrombin binding

Research and practice in thrombosis and haemostasis(2023)

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摘要
•Fibrinogen variants located at thrombin-binding sites may lead to hemorrhage or thrombosis.•AαGlu39 and BβAla68 of fibrinogen are crucial for fibrin(ogen)-thrombin–nonsubstrate binding.•Homozygous AαGlu39Lys variant affects thrombin-binding capacity and causes a bleeding phenotype.•Heterozygous AαGlu39Lys carrier is asymptomatic and may be missed by routine screening tests.
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关键词
dysfibrinogenemia,fibrinogen,fibrinolysis,hemorrhage,thrombin
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