Article
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.
Thrombosis and haemostasis - 1 Jan 2016
Batlle Javier, Pérez-Rodríguez Almudena, Corrales Irene, López-Fernández Maria Fernanda, Rodríguez-Trillo Ángela, Lourés Esther, Cid Ana Rosa, Bonanad Santiago, Cabrera Noelia, Moret Andrés, Parra Rafael, Mingot-Castellano María Eva, Balda Ignacia, Altisent Carmen, Pérez-Montes Rocío, Fisac Rosa María, Iruín Gemma, Herrero Sonia, Soto Inmaculada, de Rueda Beatriz, Jiménez-Yuste Victor, Alonso Nieves, Vilariño Dolores, Arija Olga, Campos Rosa, Paloma María José, Bermejo Nuria, Toll Teresa, 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, Borràs Nina, Vidal Francisco
Abstract excerpt
The diagnosis of von Willebrand disease (VWD) remains difficult in a significant proportion of patients. A Spanish multicentre study investigated a cohort of 556 patients from 330 families who were analysed centrally. VWD was confirmed in 480. Next generation sequencing (NGS) of the whole coding VWF was carried out in all recruited patients, compared with the phenotype, and a final diagnosis established. A total...
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