Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA

Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects...

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Detalles Bibliográficos
Autores principales: Borràs, Nina, Orriols, Gerard, Batlle, Javier, Pérez-Rodríguez, Almudena, Fidalgo, Teresa, Martinho, Patricia, López-Fernández, María Fernanda, Rodríguez-Trillo, Ángela, Lourés, Esther, Parra, Rafael, Altisent, Carme, Cid, Ana Rosa, Bonanad, Santiago, Cabrera, Noelia, Moret, Andrés, Mingot-Castellano, María Eva, Navarro, Nira, Pérez-Montes, Rocío, Marcellin, Sally, 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, Ruben, Mateo, José, Arribalzaga, Karmele, Marco, Pascual, Palomo, Ángeles, Quismondo, Nerea Castro, Iñigo, Belén, Nieto, María del Mar, Vidal, Rosa, Martínez, María Paz, Aguinaco, Reyes, Tenorio, Jesús María, Ferreiro, María, García-Frade, Javier, Rodríguez-Huerta, Ana María, Cuesta, Jorge, Rodríguez-González, Ramón, García-Candel, Faustino, Dobón, Manuela, Aguilar, Carlos, Vidal, Francisco, Corrales, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395343/
https://www.ncbi.nlm.nih.gov/pubmed/30361419
http://dx.doi.org/10.3324/haematol.2018.203166

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