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The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Por...
David, D; Ventura, C; Moreira, I; Diniz, MJ; Antunes, M; Tavares, A; Araújo, F; Morais, S; Campos, M; Lavinha, J; Kemball-Cook, GDisease-causing alterations within the F8 gene were identified in 177 hemophilia A families of Portuguese origin. The spectrum of non-inversion F8 mutations in 101 families included 67 different alterations, namely: 36 missense, 8 nonsense and 4 splice site mutations, as well as 19 insertions/deletions. Thirty-four of these mutations are novel. Molecular modeling allowed prediction of the conformational changes...
Date: 2006
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Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE