XXXVI Congreso SETH

XXXVI Congreso Nacional de la Sociedad Española de Trombosis y Hemostasia 14 17. Logsdon GA, Vollger MR, Eichler EE. Long-read human genome sequencing and its applications. Nat Rev Genet 2020; Jun 5. 18. Kono N, Arakawa K. Nanopore sequencing: Review of potential appli- cations in functional genomics. Dev Growth Differ 2019;61(5):316-26. 19. De la Morena-Barrio B, Borràs N, Rodríguez-AlénA, et al. Identifica- tion of the first large intronic deletion responsible of type I antithrom- bin deficiency not detected by routine molecular diagnostic methods. Br J Haematol 2019;186(4):e82-6. 20. Orlando C, de la Morena-Barrio B, Pareyn I, et al. Antithrombin p.Thr147Ala, the first founder mutation from African origin respon- sible for inherited antithrombin deficiency Thromb Haemost 2020; in press. 21. Spreafico M, Peyvandi F. Combined FV and FVIII deficiency. Hae- mophilia 2008;14(6):1201-8. 22. Dasi MA, González-Conejero R, Izquierdo S, et al. Uniparental disomy causes deficiencies of vitamin K-dependent proteins. J Thromb Haemost 2016;14(12):2410-8. 23. De la Morena-Barrio ME, Martínez-Martínez I, de Cos C, et al. Hypoglycosylation is a common finding in antithrombin deficien- cy in the absence of a SERPINC1 gene defect. J Thromb Haemost 2016;14(8):1549-60. 24. De la Morena-Barrio ME, Wypasek E, Owczarek D, et al. MPI-CDG with transient hypoglycosylation and antithrombin deficiency. Hae- matologica 2019;104(2):e79-e82. 25. Ramanathan T, Hughes TM, Richardson AJ. Perinatal inferior vena cava thrombosis and absence of the infrarenal inferior vena cava. J Vasc Surg 2001;33(5):1097-9. 26. Kovac M, Mitic G, Djilas I, et al. Genotype phenotype correlation in a pediatric population with antithrombin deficiency. Eur J Pediatr 2019;178(10):1471-8. 27. Friedberg EC. Hot news: temperature-sensitive humans explain here- ditary disease. Bioessays 2001;23(8):671-3. 28. Corral J, VicenteV, Carrell RW. Thrombosis as a conformational disea- se. Haematologica 2005;90(2):238-46. 29. Beauchamp NJ, Pike RN, Daly M, et al. Antithrombins Wibble and Wobble (T85M/K): archetypal conformational diseases with in vivo latent-transition, thrombosis, and heparin activation. Blood 1998;92(8):2696-706. 30. Navarro-Fernández J, De la Morena-Barrio ME, Padilla J, et al. Anti- thrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency. Thromb Haemost 2016;116(1):146-54.

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