Article
Partial deletion of the αC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis.
Thrombosis and haemostasis - 1 Dec 2013
Westbury Sarah K, Duval Cédric, Philippou Helen, Brown Rebecca, Lee Kurtis R, Murden Sherina L, Phillips Emma, Reilly-Stitt Christopher, Whalley Daniel, Ariëns Robert A, Mumford Andrew D
Abstract excerpt
Genetic fibrinogen (FGN) variants that are associated with bleeding or thrombosis may be informative about fibrin polymerisation, structure and fibrinolysis. We report a four generation family with thrombosis and heritable dysfibrinogenaemia segregating with a c.[1541delC];[=] variation in FGA (FGN-Perth). This deletion predicts a truncated FGN αC-domain with an unpaired terminal Cys at residue 517 of FGN-Aα. In...
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