Article
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Haematologica - 1 Dec 2017
Borràs Nina, Batlle Javier, Pérez-Rodríguez Almudena, López-Fernández María Fernanda, Rodríguez-Trillo Ángela, Lourés Esther, Cid Ana Rosa, Bonanad Santiago, Cabrera Noelia, Moret Andrés, Parra Rafael, Mingot-Castellano María Eva, Balda Ignacia, Altisent Carme, Pérez-Montes Rocío, Fisac Rosa María, Iruín Gemma, Herrero Sonia, Soto Inmaculada, de Rueda Beatriz, Jiménez-Yuste Víctor, Alonso Nieves, Vilariño Dolores, Arija Olga, Campos Rosa, Paloma María José, Bermejo Nuria, Berrueco Rubén, Mateo José, Arribalzaga Karmele, Marco Pascual, Palomo Ángeles, Sarmiento Lizheidy, Iñigo Belén, Nieto María Del Mar, Vidal Rosa, Martínez María Paz, Aguinaco Reyes, César Jesús María, Ferreiro María, García-Frade Javier, Rodríguez-Huerta Ana María, Cuesta Jorge, Rodríguez-González Ramón, García-Candel Faustino, Cornudella Rosa, Aguilar Carlos, Vidal Francisco, Corrales Irene
Abstract excerpt
Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand...
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