Publication: Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.
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Identifiers
Date
2020-09-29
Authors
Bravo-Perez, C
de-la-Morena-Barrio, M E
Palomo, A
Entrena, L
de-la-Morena-Barrio, B
Padilla, J
Miñano, A
Navarro, E
Cifuentes, R
Corral, J
Advisors
Journal Title
Journal ISSN
Volume Title
Publisher
Wiley
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Abstract
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.
Description
MeSH Terms
Adult
Antithrombin III
Antithrombin III Deficiency
Family
Female
Fetal Death
Genotype
Humans
Male
Mutation
Point Mutation
Antithrombin III
Antithrombin III Deficiency
Family
Female
Fetal Death
Genotype
Humans
Male
Mutation
Point Mutation
DeCS Terms
Antitrombinas
Trombofilia
Trombina
Anticoagulantes
Desarrollo Embrionario
Tromboembolia Venosa
Trombofilia
Trombina
Anticoagulantes
Desarrollo Embrionario
Tromboembolia Venosa
CIE Terms
Keywords
Antithrombins, Thrombophilia, Embryonic Development, Anticoagulants, Venous Thromboembolism
Citation
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