Article
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2011
Levrat Emmanuel, Aboukhamis Imad, de Moerloose Philippe, Farho Jaafar, Chamaa Sahar, Reber Guido, Fort Alexandre, Neerman-Arbez Marguerite
Abstract excerpt
Congenital afibrinogenemia is a rare autosomal recessive coagulation disorder characterized essentially by bleeding symptoms, but miscarriages and, paradoxically, thromboembolic events can also occur. Most reported mutations leading to congenital afibrinogenemia are located in FGA encoding the fibrinogen A α-chain. In this study, we analysed 12 individuals from a consanguineous Syrian family with reduced or...
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