RT Journal Article
T1 Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.
A1 Bravo-Perez, C
A1 de-la-Morena-Barrio, M E
A1 Palomo, A
A1 Entrena, L
A1 de-la-Morena-Barrio, B
A1 Padilla, J
A1 Miñano, A
A1 Navarro, E
A1 Cifuentes, R
A1 Corral, J
A1 Vicente, V
K1 Antithrombins
K1 Thrombophilia
K1 Embryonic Development
K1 Anticoagulants
K1 Venous Thromboembolism
AB 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.
PB Wiley
YR 2020
FD 2020-09-29
LK http://hdl.handle.net/10668/15960
UL http://hdl.handle.net/10668/15960
LA en
NO Bravo-Pérez C, de la Morena-Barrio ME, Palomo A, Entrena L, de la Morena-Barrio B, Padilla J, et al. Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo. Br J Haematol. 2020 Oct;191(1):e32-e35
DS RISalud
RD Apr 30, 2025