Article
Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.
Thrombosis and haemostasis - 1 Mar 2020
Borràs Nina, Garcia-Martínez Iris, Batlle Javier, Pérez-Rodríguez Almudena, Parra Rafael, Altisent Carme, López-Fernández María Fernanda, Costa Pinto Joana, Batlle-López Fernando, Cid Ana Rosa, Bonanad Santiago, Cabrera Noelia, Moret Andrés, Mingot-Castellano María Eva, Navarro Nira, Pérez-Montes Rocío, Marcellini Shally, Moreto Ana, Herrero Sonia, Soto Inmaculada, Fernández-Mosteirín Núria, Jiménez-Yuste Víctor, Alonso Nieves, de Andrés-Jacob Aurora, Fontanes Emilia, Campos Rosa, Paloma María José, Bermejo Nuria, Berrueco Rubén, Mateo José, Arribalzaga Karmele, Marco Pascual, Palomo Ángeles, Castro Quismondo Nerea, Iñigo Belén, Del Mar Nieto María, Vidal Rosa, Martínez María Paz, Aguinaco Reyes, Tenorio Maria, Ferreiro María, García-Frade Javier, Rodríguez-Huerta Ana María, Cuesta Jorge, Rodríguez-González Ramón, García-Candel Faustino, Dobón Manuela, Aguilar Carlos, Corrales Irene, Vidal Francisco
Abstract excerpt
The clinical diagnosis of von Willebrand disease (VWD), particularly type 1, can be complex because several genetic and environmental factors affect von Willebrand factor (VWF) plasma levels. An estimated 60% of the phenotypic variation is attributable to hereditary factors, with the ABO blood group locus being the most influential. However, recent studies provide strong evidence that nonsynonymous single...
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