Article
Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen.
Thrombosis and haemostasis - 1 Sept 2009
Kotlín Roman, Reicheltová Zuzana, Malý Martin, Suttnar Jirí, Sobotková Alzbeta, Salaj Peter, Hirmerová Jana, Riedel Tomás, Dyr Jan E
Abstract excerpt
Congenital dysfibrinogenemia is a rare disease characterised by inherited abnormality in the fibrinogen molecule, resulting in functional defects. Two patients, a 26-year-old woman and a 61-year-old man, both with history of thrombotic events, had abnormal coagulation test results. DNA sequencing showed the heterozygous gamma Y363N mutation (Fibrinogen Praha III) and the heterozygous Aalpha N106D mutation...
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