Eugenia-de-la-Morena-Barrio, María; Suchon, Pierre; Jacobsen, Eva-Marie; Iversen, Nina; Minano, Antonia; de-la-Morena-Barrio, Belén; Bravo-Pérez, Carlos; Padilla, José; Cifuentes, Rosa; Asenjo, Susana; Deleuze, Jean-François; Alexandre-Tregouet, David; Lozano, María-Luisa; Vicente, Vicente; Sandset, Per-Morten; Morange, Pierre-Emmanuel; Corral, Javier
(ELSEVIER, 2022-07)
Antithrombin deficiency, the most severe congenital thrombophilia, might be underestimated, as some pathogenic variants are not detected by routine functional methods. We have identified 2 new SERPINC1 variants, p.Glu227Lys ...