carboxy prothrombin

Alessio Branchini Lara Rizzotto Guglielmo Mariani Mariasanta Napolitano Mario Lapecorella Muriel Giansily-Blaizot Rosella Mari Alessandro Canella Mirko Pinotti Francesco Bernardi

We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminus of coagulation factor VII (FVII, 466 aminoacids). FVII levels of 3-5% and 2.7 ± 0.4% were found in prothrombin time-based and activated factor X (FXa) generation assays with human thromboplastins. Noticeably, FVII antigen levels were barely detectable (0.7 ± 0.2%) which suggested a gain-of-func...

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