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Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.
Pérez-Rodríguez A, Batlle J, Pinto JC, Corrales I, Borràs N, Garcia-Martínez I, Cid AR, Bonanad S, Parra R, Mingot-Castellano ME, Navarro N, Altisent C, Pérez-Montes R, Moretó A, Herrero S, Soto I, Mosteirín NF, Jiménez-Yuste V, Jacob AA, Fontanes E, Mateo J, Quismondo NC, Batlle F, Vidal F, López-Fernández MF; investigators and centers involved in the PCM-EVW-ES project. Pérez-Rodríguez A, et al. Among authors: quismondo nc. Haemophilia. 2021 Nov;27(6):1007-1021. doi: 10.1111/hae.14405. Epub 2021 Sep 7. Haemophilia. 2021. PMID: 34494337
Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Borràs N, Orriols G, Batlle J, Pérez-Rodríguez A, Fidalgo T, Martinho P, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Parra R, Altisent C, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Pérez-Montes R, Marcellin S, Moreto A, Herrero S, Soto I, Fernández-Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés-Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Quismondo NC, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Vidal F, Corrales I. Borràs N, et al. Among authors: quismondo nc. Haematologica. 2019 Mar;104(3):587-598. doi: 10.3324/haematol.2018.203166. Epub 2018 Oct 25. Haematologica. 2019. PMID: 30361419 Free PMC article.