Publicaciones en colaboración con investigadores/as de Hospital Miguel Servet (4)

2024

  1. Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders

    Journal of Thrombosis and Haemostasis, Vol. 22, Núm. 3, pp. 851-859

2018

  1. Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6

    Thrombosis and Haemostasis

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. Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

    PLoS ONE, Vol. 11, Núm. 3