Article
X-linked thrombophilia with a mutant factor IX (factor IX Padua).
The New England journal of medicine - 22 Oct 2009
Simioni Paolo, Tormene Daniela, Tognin Giulio, Gavasso Sabrina, Bulato Cristiana, Iacobelli Nicholas P, Finn Jonathan D, Spiezia Luca, Radu Claudia, Arruda Valder R
Abstract excerpt
We report a case of juvenile thrombophilia associated with a substitution of leucine for arginine at position 338 (R338L) in the factor IX gene (factor IX-R338L). The level of the mutant factor IX protein in plasma was normal, but the clotting activity of factor IX from the proband was approximately eight times the normal level. In vitro, recombinant factor IX-R338L had a specific activity that was 5 to 10 times...
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