%0 Journal Article
%A Bravo-Perez, C
%A de-la-Morena-Barrio, M E
%A Palomo, A
%A Entrena, L
%A de-la-Morena-Barrio, B
%A Padilla, J
%A Miñano, A
%A Navarro, E
%A Cifuentes, R
%A Corral, J
%A Vicente, V
%T Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.
%D 2020
%U http://hdl.handle.net/10668/15960
%X Antithrombin is a key endogenous anticoagulant. Congenital antithrombin deficiency, mainly but not only due to SERPINC1 variants, is a major thrombophilia significantly associated with early onset venous thromboembolism (VTE). The fact that total absence of antithrombin is lethal in animal models suggests that the control of thrombin might be crucial during embryonic development. However, the role of antithrombin deficiency in embryonic states in humans has only been suggested by indirect observations.
%K Antithrombins
%K Thrombophilia
%K Embryonic Development
%K Anticoagulants
%K Venous Thromboembolism
%~