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Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.

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dc.contributor.authorBravo-Perez, C
dc.contributor.authorde-la-Morena-Barrio, M E
dc.contributor.authorPalomo, A
dc.contributor.authorEntrena, L
dc.contributor.authorde-la-Morena-Barrio, B
dc.contributor.authorPadilla, J
dc.contributor.authorMiñano, A
dc.contributor.authorNavarro, E
dc.contributor.authorCifuentes, R
dc.contributor.authorCorral, J
dc.contributor.authorVicente, V
dc.contributor.funderInstituto de Salud Carlos III
dc.contributor.funderFundación Seneca
dc.date.accessioned2023-02-09T09:37:05Z
dc.date.available2023-02-09T09:37:05Z
dc.date.issued2020-09-29
dc.description.abstractAntithrombin 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.
dc.description.versionSi
dc.identifier.citationBravo-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
dc.identifier.doi10.1111/bjh.16963
dc.identifier.essn1365-2141
dc.identifier.pmid32686144
dc.identifier.unpaywallURLhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bjh.16963
dc.identifier.urihttp://hdl.handle.net/10668/15960
dc.issue.number1
dc.journal.titleBritish journal of haematology
dc.journal.titleabbreviationBr J Haematol
dc.language.isoen
dc.organizationHospital Universitario Virgen de las Nieves
dc.organizationHospital Universitario Regional de Málaga
dc.page.number4
dc.provenanceRealizada la curación de contenido 03/04/2025
dc.publisherWiley
dc.pubmedtypeCase Reports
dc.pubmedtypeLetter
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.relation.projectIDPI18/00598
dc.relation.projectID19873/GERM/15
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0007-1048&date=2020&volume=191&issue=1&spage=e32
dc.rights.accessRightsRestricted Access
dc.subjectAntithrombins
dc.subjectThrombophilia
dc.subjectEmbryonic Development
dc.subjectAnticoagulants
dc.subjectVenous Thromboembolism
dc.subject.decsAntitrombinas
dc.subject.decsTrombofilia
dc.subject.decsTrombina
dc.subject.decsAnticoagulantes
dc.subject.decsDesarrollo Embrionario
dc.subject.decsTromboembolia Venosa
dc.subject.meshAdult
dc.subject.meshAntithrombin III
dc.subject.meshAntithrombin III Deficiency
dc.subject.meshFamily
dc.subject.meshFemale
dc.subject.meshFetal Death
dc.subject.meshGenotype
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshPoint Mutation
dc.titleGenotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number191
dspace.entity.typePublication

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