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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...


Quercus suber putative dirigent protein 7.5 gene, partial cds

Nobrega, F; Vidal, R; Sardinha, R; Sousa, RBruno de


Hypericum glandulosum 5S ribosomal RNA gene, partial sequence

Carvalho, R; Nobrega, F; Lobo, C; Antunes, T; Sevinate-Pinto, I; Vidal, R; Teixeira, G


Hypericum perforatum 26S ribosomal RNA gene, partial sequence

Carvalho, R; Nobrega, F; Lobo, C; Antunes, T; Sevinate-Pinto, I; Vidal, R; Teixeira, G


Hypericum perforatum 5S ribosomal RNA gene, partial sequence

Carvalho, R; Nobrega, F; Lobo, C; Antunes, T; Sevinate-Pinto, I; Vidal, R; Teixeira, G


Hypericum glandulosum 26S ribosomal RNA gene, partial sequence

Carvalho, R; Nobrega, F; Lobo, C; Antunes, T; Sevinate-Pinto, I; Vidal, R; Teixeira, G


Hypericum androsaemum 5S ribosomal RNA gene, partial sequence

Carvalho, R; Nobrega, F; Lobo, C; Antunes, T; Sevinate-Pinto, I; Vidal, R; Teixeira, G


Quercus suber putative dirigent protein 9.21 gene, partial cds

Nobrega, F; Vidal, R; Sardinha, R; Sousa, RBruno de


Hypericum androsaemum 26S ribosomal RNA gene, partial sequence

Carvalho, R; Nobrega, F; Lobo, C; Antunes, T; Sevinate-Pinto, I; Vidal, R; Teixeira, G


Studies on virus - infected cork oak (Quercus suber L.)

Nóbrega, F; Vidal, R; Serrano, R; Sardinha, R; Sousa, RB


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