3 documents found, page 1 of 1
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...
Cost of Immune Tolerance Induction in Hemophilia A Patients: Results from the I...
Fusco, F; Gringeri, A; Scalone, L; Mantovani, L; Rocino, A; Altisent, C; Astermark, J; Diniz, MJ; Fijnvandraat, K; Klamroth, R; Lambert, T
Non-Genetic Risk Factors and the Development of Inhibitors in Haemophilia: a Co...
Astermark, J; Altisent, C; Batorova, A; Diniz, MJ; Gringeri, A; Holme, PA; Karafoulidou, A; Lopez-Fernández, MF; Reipert, BM; Rocino, A; Schiavoni, MThe development of inhibitors to the infused factor in patients with haemophilia is a serious clinical problem. Recent evidence suggests that alongside the strong genetic contribution to inhibitor formation, there are a number of non-genetic factors--perceived by the immune system as danger signals--which promote formation of inhibitors. This study provides a comprehensive review of clinical studies relating to...