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 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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Main Author: Borràs, N (author)
Other Authors: Orriols, G (author), Batlle, J (author), Pérez-Rodríguez, A (author), Fidalgo, T (author), Martinho, P (author), López-Fernández, MF (author), Rodríguez-Trillo, Á (author), Lourés, E (author), Parra, R (author), Altisent, C (author), Cid, AR (author), Bonanad, S (author), Cabrera, N (author), Moret, A (author), Mingot-Castellano, ME (author), Navarro, N (author), Pérez-Montes, R (author), Marcellini, S (author), Moreto, A (author), Herrero, S (author), Soto, I (author), Fernández-Mosteirín, N (author), Jiménez-Yuste, V (author), Alonso, N (author), de Andrés-Jacob, A (author), Fontanes, E (author), Campos, R (author), Paloma, MJ (author), Bermejo, N (author), Berrueco, R (author), Mateo, J (author), Arribalzaga, K (author), Marco, P (author), Palomo, Á (author), Castro Quismondo, N (author), Iñigo, B (author), Nieto, MM (author), Vidal, R (author), Martínez, MP (author), Aguinaco, R (author), Tenorio, JM (author), Ferreiro, M (author), García-Frade, J (author), Rodríguez-Huerta, AM (author), Cuesta, J (author), Rodríguez-González, R (author), García-Candel, F (author), Dobón, M (author), Aguilar, C (author), Vidal, F (author), Corrales, I (author)
Format: article
Language:eng
Published: 2018
Subjects:
Mutação
Processamento de RNA
Online Access:http://hdl.handle.net/10400.4/2182
Country:Portugal
Oai:oai:rihuc.huc.min-saude.pt:10400.4/2182

Internet

http://hdl.handle.net/10400.4/2182

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