Article
In vitro and ex vivo rescue of a nonsense mutation responsible for severe coagulation factor V deficiency.
Journal of thrombosis and haemostasis : JTH - 1 Feb 2024
Todaro Alice M, Radu Claudia M, Ciccone Maria, Toffanin Serena, Serino M Luisa, Campello Elena, Bulato Cristiana, Lunghi Barbara, Gemmati Donato, Cuneo Antonio, Hackeng Tilman M, Simioni Paolo, Bernardi Francesco, Castoldi Elisabetta
Abstract excerpt
BACKGROUND: Coagulation factor V (FV) deficiency is a rare bleeding disorder that is usually managed with fresh-frozen plasma. Patients with nonsense mutations may respond to treatment with readthrough agents. OBJECTIVES: To investigate whether the F5 p.Arg1161Ter mutation, causing severe FV deficiency in several patients, would be amenable to readthrough therapy. METHODS: F5 mRNA and protein expression were...
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