TY  - JOUR
AU  - Bravo-Perez, C
AU  - de-la-Morena-Barrio, M E
AU  - Palomo, A
AU  - Entrena, L
AU  - de-la-Morena-Barrio, B
AU  - Padilla, J
AU  - Miñano, A
AU  - Navarro, E
AU  - Cifuentes, R
AU  - Corral, J
AU  - Vicente, V
PY  - 2020
DO  - 10.1111/bjh.16963
UR  - http://hdl.handle.net/10668/15960
T2  - British journal of haematology
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...
LA  - en
PB  - Wiley
KW  - Antithrombins
KW  - Thrombophilia
KW  - Embryonic Development
KW  - Anticoagulants
KW  - Venous Thromboembolism
KW  - Adult
KW  - Antithrombin III
KW  - Antithrombin III Deficiency
KW  - Family
KW  - Female
KW  - Fetal Death
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Point Mutation
TI  - Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.
TY  - research article
VL  - 191
ER  -