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Unraveling the effect of silent, intronic and missense mutations on VWF splicin...

Borràs, N; Orriols, G; Batlle, J; Pérez-Rodríguez, A; Fidalgo, T; Martinho, P; López-Fernández, MF; Rodríguez-Trillo, Á; Lourés, E; Parra, R

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 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study...

Date: 2018   |   Origin: Repositório do Centro Hospitalar e Universitário de Coimbra
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