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

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Veröffentlicht in:British journal of haematology 2020-10, Vol.191 (1), p.e32-e35
Hauptverfasser: Bravo‐Pérez, C., Morena‐Barrio, M. E., Palomo, A., Entrena, L., Morena‐Barrio, B., Padilla, J., Miñano, A., Navarro, E., Cifuentes, R., Corral, J., Vicente, V.
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container_title British journal of haematology
container_volume 191
creator Bravo‐Pérez, C.
Morena‐Barrio, M. E.
Palomo, A.
Entrena, L.
Morena‐Barrio, B.
Padilla, J.
Miñano, A.
Navarro, E.
Cifuentes, R.
Corral, J.
Vicente, V.
description
doi_str_mv 10.1111/bjh.16963
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source MEDLINE; Wiley Online Library Journals Frontfile Complete; Wiley Online Library Free Content
subjects Adult
Antithrombin
Antithrombin III - genetics
Antithrombin III Deficiency - genetics
Family
Female
Fetal Death
Genotype
Genotypes
Hematology
Humans
Male
Mutation
Phenotypes
Point Mutation
title Genotype–phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo
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