Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients

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 (P...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709099/
https://www.ncbi.nlm.nih.gov/pubmed/28971901
http://dx.doi.org/10.3324/haematol.2017.168765

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709099/
https://www.ncbi.nlm.nih.gov/pubmed/28971901
http://dx.doi.org/10.3324/haematol.2017.168765

Ejemplares similares