A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis

A 5-year-old boy was hospitalized for acute appendicitis. Routine preoperative hemostasis screening resulted in a diagnosis of dysfibrinogenemia. Fifteen days after the operation the patient was re-hospitalized for deep vein thrombosis. Genetic analysis of the fibrinogen genes revealed a novel misse...

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Veröffentlicht in:	Blood coagulation & fibrinolysis 2008-10, Vol.19 (7), p.697-699
Hauptverfasser:	Robert-Ebadi, Helia, Le Querrec, Agnès, de Moerloose, Philippe, Gandon-Laloum, Sylvie, Borel Derlon, Annie, Neerman-Arbez, Marguerite
Format:	Artikel
Sprache:	eng
Schlagworte:	Afibrinogenemia - etiology Afibrinogenemia - genetics Amino Acid Sequence Amino Acid Substitution Biological and medical sciences Blood coagulation. Blood cells Child, Preschool Fibrinogen - genetics Fibrinogens, Abnormal - genetics Fundamental and applied biological sciences. Psychology Hematologic and hematopoietic diseases Humans Male Medical sciences Molecular and cellular biology Mutation, Missense Platelet diseases and coagulopathies Venous Thrombosis - complications Venous Thrombosis - genetics
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