Publicacions en col·laboració amb investigadors/es de Queen Mary University of London (2)

2021

  1. A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis

    American Journal of Hematology

2017

  1. Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

    Journal of Investigative Dermatology, Vol. 137, Núm. 11, pp. 2344-2353