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 of...

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主要な著者:	Nina Borràs, Gerard Orriols, Javier Batlle, Almudena Pérez-Rodríguez, Teresa Fidalgo, Patricia Martinho, María Fernanda López-Fernández, Ángela Rodríguez-Trillo, Esther Lourés, Rafael Parra, Carme Altisent, Ana Rosa Cid, Santiago Bonanad, Noelia Cabrera, Andrés Moret, María Eva Mingot-Castellano, Nira Navarro, Rocío Pérez-Montes, Sally Marcellin, Ana Moreto, Sonia Herrero, Inmaculada Soto, Núria Fernández-Mosteirín, Víctor Jiménez-Yuste, Nieves Alonso, Aurora de Andrés-Jacob, Emilia Fontanes, Rosa Campos, María José Paloma, Nuria Bermejo, Ruben Berrueco, José Mateo, Karmele Arribalzaga, Pascual Marco, Ángeles Palomo, Nerea Castro Quismondo, Belén Iñigo, María del Mar Nieto, Rosa Vidal, María Paz Martínez, Reyes Aguinaco, Jesús María Tenorio, María Ferreiro, Javier García-Frade, Ana María Rodríguez-Huerta, Jorge Cuesta, Ramón Rodríguez-González, Faustino García-Candel, Manuela Dobón, Carlos Aguilar, Francisco Vidal, Irene Corrales
フォーマット:	Artigo
言語:	Inglês
出版事項:	Ferrata Storti Foundation 2019-03-01
シリーズ:	Haematologica
オンライン･アクセス:	https://haematologica.org/article/view/8816
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