4 documents found, page 1 of 1
Variantes genéticas pró-trombóticas com (improváveis?) factores de risco para a...
Moreira, I; Faustino, P; Picanço, I; Martins, R; Morais, A; Dias, A; Soares, I; Rolão, C; Ducla-Soares, JL; Braga, L; David, D; Lavinha, J
Variantes Genéticas Pró-Trombóticas como (Improváveis?) Factores de Risco para ...
Moreira, I; Faustino, P; Picanço, I; Martins, R; Morais, A; Dias, A; Soares, I; Rolão, C; Ducla-Soares, JL; Braga, L; David, D; Lavinha, JCONTEXTO: A drepanocitose é uma anemia hemolítica hereditária com características pró-adesivas, pró-inflamatórias e pró-coagulantes, incluindo alterações na hemostase e activação da cascata da coagulação. PLANO DO ESTUDO: Neste estudo analisaram-se, em 140 drepanocíticos africanos e 126 indivíduos sem hemoglobina S também de origem africana, variantes genéticas polimórficas em quatro loci envolvidos na coagulaç...
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...
Single-Strand Conformation Polymorphism (SSCP) Analysis of the Molecular Pathol...
David, D; Rosa, HA; Pemberton, S; Diniz, MJ; Campos, M; Lavinha, JIn the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2.66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin. In eight of the patients an altered migration pattern of single-stranded DNA was observed. Direct sequenc...