Publications in collaboration with researchers from Hospital Clínico San Carlos de Madrid (5)

2022

  1. Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

    Blood, Vol. 140, Núm. 2, pp. 140-151

2021

  1. High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome

    American Journal of Hematology, Vol. 96, Núm. 11, pp. 1363-1373

2017

  1. Defects of splicing in antithrombin deficiency

    Research and Practice in Thrombosis and Haemostasis, Vol. 1, Núm. 2, pp. 216-222

2016

  1. Antithrombin Dublin (p.Val30Glu): A relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency

    Thrombosis and Haemostasis, Vol. 116, Núm. 1, pp. 146-154

  2. First case with antithrombin deficiency, mesenteric vein thrombosis and pregnancy: Multidisciplinary diagnosis and successful management

    Thrombosis Research