The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/523 |
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. |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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7160 |
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The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese PatientsHemofilia APortugalMutaçãoFactor VIIIMapeamento por RestriçãoSequência de BasesInversão CromossômicaCódon Sem SentidoPolimorfismo de Conformação de Filamento ÚnicoPolimorfismo GenéticoMutação de Sentido IncorrectoFactor VIIProcessamento AlternativoFamíliaDisease-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.Ferrata Storti FoundationRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEDavid, DVentura, CMoreira, IDiniz, MJAntunes, MTavares, AAraújo, FMorais, SCampos, MLavinha, JKemball-Cook, G2011-12-02T17:37:15Z20062006-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/523engHaematologica. 2006 Jun;91(6):840-3info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:27:04Zoai:repositorio.chlc.min-saude.pt:10400.17/523Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:18:17.987811Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients |
title |
The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients |
spellingShingle |
The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients David, D Hemofilia A Portugal Mutação Factor VIII Mapeamento por Restrição Sequência de Bases Inversão Cromossômica Códon Sem Sentido Polimorfismo de Conformação de Filamento Único Polimorfismo Genético Mutação de Sentido Incorrecto Factor VII Processamento Alternativo Família |
title_short |
The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients |
title_full |
The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients |
title_fullStr |
The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients |
title_full_unstemmed |
The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients |
title_sort |
The Spectrum of Mutations and Molecular Pathogenesis of Hemophilia A in 181 Portuguese Patients |
author |
David, D |
author_facet |
David, D Ventura, C Moreira, I Diniz, MJ Antunes, M Tavares, A Araújo, F Morais, S Campos, M Lavinha, J Kemball-Cook, G |
author_role |
author |
author2 |
Ventura, C Moreira, I Diniz, MJ Antunes, M Tavares, A Araújo, F Morais, S Campos, M Lavinha, J Kemball-Cook, G |
author2_role |
author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
David, D Ventura, C Moreira, I Diniz, MJ Antunes, M Tavares, A Araújo, F Morais, S Campos, M Lavinha, J Kemball-Cook, G |
dc.subject.por.fl_str_mv |
Hemofilia A Portugal Mutação Factor VIII Mapeamento por Restrição Sequência de Bases Inversão Cromossômica Códon Sem Sentido Polimorfismo de Conformação de Filamento Único Polimorfismo Genético Mutação de Sentido Incorrecto Factor VII Processamento Alternativo Família |
topic |
Hemofilia A Portugal Mutação Factor VIII Mapeamento por Restrição Sequência de Bases Inversão Cromossômica Códon Sem Sentido Polimorfismo de Conformação de Filamento Único Polimorfismo Genético Mutação de Sentido Incorrecto Factor VII Processamento Alternativo Família |
description |
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. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006 2006-01-01T00:00:00Z 2011-12-02T17:37:15Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/523 |
url |
http://hdl.handle.net/10400.17/523 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Haematologica. 2006 Jun;91(6):840-3 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Ferrata Storti Foundation |
publisher.none.fl_str_mv |
Ferrata Storti Foundation |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
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1799131279524888576 |