Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/692
Título: The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients
Autor: David, D.
Ventura, C.
Moreira, I.
Diniz, M.
Antunes, M.
Tavares, A.
Araújo, F.
Morais, S.
Campos, M.
Lavinha, J.
Kemball-Cook, G.
Palavras-chave: hemophilia A
molecular modeling
spectrum of mutations
splicing mutations
vWF
Data: 2006
Editora: Ferrata Storti Foundation
Citação: Haematologica. 2006 Jun;91(6):840-3
Resumo: Disease-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 introduced by selected amino acid substitutions and their correlation with the patients' phenotypes. The relatively frequent, population-specific, missense mutations together with de novo alterations can lead to significant differences in the spectrum of F8 mutations among different populations
Peer review: yes
URI: http://hdl.handle.net/10400.16/692
Versão do Editor: http://www.haematologica.org/cgi/reprint/91/6/840
Aparece nas colecções:SHC - Artigos publicados em revistas indexadas na Medline
SS - Artigos publicados em revistas indexadas na Medline

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