Article
Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.
Human molecular genetics - 1 Nov 2005
Vu Dung, Di Sanza Corinne, Caille Dorothée, de Moerloose Philippe, Scheib Holger, Meda Paolo, Neerman-Arbez Marguerite
Abstract excerpt
Congenital afibrinogenemia is a rare bleeding disorder characterized by the absence in circulation of fibrinogen, a hexamer composed of two sets of three polypeptides (Aalpha, Bbeta and gamma). Each polypeptide is encoded by a distinct gene, FGA, FGB and FGG, all three clustered in a region of 50 kb on 4q31. A subset of afibrinogenemia mutations has been shown to specifically impair fibrinogen secretion, but the...
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