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Items for "gene mutation"

A novel fibrinogen B chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia

Congenital afibrinogenemia and severe hypofibrinogenemia are severe bleeding disorders characterized by either undetectable or very low levels of fibrinogen in patients plasma and platelets...

Keywords: Congenital hypofibrinogenemia / afibrinogenemia, fibrinogen/fibrin, gene mutation, platelet aggregation

06/2006 | Thrombosis and Haemostasis, Schattauer