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Cross-Sectional Epidemiological Study to Understand the Approach to Treatment i...
Álvarez-Román, MT; Carvalho, M; Benítez-Hidalgo, O; Catarino, C; García-Frade, LJ; Rodríguez-López, M; Antunes, M; Fernández-Mosteirín, NIntroduction: Treatment options for patients with hemophilia B (PWHB) have improved in the last decade, but epidemiological studies are required to optimize clinical management and define unmet needs. Objective: The objective of the study is to investigate current disease management and quality of life (QoL) in PWHB in Spain and Portugal. Methods: Epidemiological, cross-sectional, multicenter study with moderat...
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, RLarge 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...