Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis

Detalhes bibliográficos
Autor(a) principal: Manco, Licínio
Data de Publicação: 2005
Outros Autores: Gonçalves, Paula, Macedo-Ribeiro, Sandra, Seabra, Carlos, Melo, Paula, Ribeiro, Maria Letícia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10316/13584
Resumo: We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205CÆÆA in exon 10 predicts the amino acid change 402ThrÆÆAsn in the bb-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366GÆÆA in exon 12 predicts the amino acid substitution 456AspÆÆHis in the aa-helix N, at the protein surface (G6PD Figueira da Foz).
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spelling Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysisG6PD deficiencyPortugalG6PD class I mutationsDimer interfaceG6PD structureAmino acid conservationWe describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205CÆÆA in exon 10 predicts the amino acid change 402ThrÆÆAsn in the bb-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366GÆÆA in exon 12 predicts the amino acid substitution 456AspÆÆHis in the aa-helix N, at the protein surface (G6PD Figueira da Foz).Ferrata Storti Foundation2005info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/13584http://hdl.handle.net/10316/13584engHaematologica. 90:8 (2005) 1135-11360390-6078Manco, LicínioGonçalves, PaulaMacedo-Ribeiro, SandraSeabra, CarlosMelo, PaulaRibeiro, Maria Letíciainfo: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:RCAAP2020-05-25T08:02:05Zoai:estudogeral.uc.pt:10316/13584Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:55:55.351801Repositório 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 Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
title Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
spellingShingle Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
Manco, Licínio
G6PD deficiency
Portugal
G6PD class I mutations
Dimer interface
G6PD structure
Amino acid conservation
title_short Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
title_full Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
title_fullStr Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
title_full_unstemmed Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
title_sort Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis
author Manco, Licínio
author_facet Manco, Licínio
Gonçalves, Paula
Macedo-Ribeiro, Sandra
Seabra, Carlos
Melo, Paula
Ribeiro, Maria Letícia
author_role author
author2 Gonçalves, Paula
Macedo-Ribeiro, Sandra
Seabra, Carlos
Melo, Paula
Ribeiro, Maria Letícia
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Manco, Licínio
Gonçalves, Paula
Macedo-Ribeiro, Sandra
Seabra, Carlos
Melo, Paula
Ribeiro, Maria Letícia
dc.subject.por.fl_str_mv G6PD deficiency
Portugal
G6PD class I mutations
Dimer interface
G6PD structure
Amino acid conservation
topic G6PD deficiency
Portugal
G6PD class I mutations
Dimer interface
G6PD structure
Amino acid conservation
description We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205CÆÆA in exon 10 predicts the amino acid change 402ThrÆÆAsn in the bb-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366GÆÆA in exon 12 predicts the amino acid substitution 456AspÆÆHis in the aa-helix N, at the protein surface (G6PD Figueira da Foz).
publishDate 2005
dc.date.none.fl_str_mv 2005
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/10316/13584
http://hdl.handle.net/10316/13584
url http://hdl.handle.net/10316/13584
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Haematologica. 90:8 (2005) 1135-1136
0390-6078
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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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