Hematologically important mutations: Shwachman–Diamond syndrome

Detalhes bibliográficos
Autor(a) principal: Costa, Elísio
Data de Publicação: 2008
Outros Autores: Santos, Rosário
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10198/488
Resumo: Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman–Bodian–Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the SBDS gene have been described. In this report, a summary of documented SDS associated mutations is provided.
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spelling Hematologically important mutations: Shwachman–Diamond syndromeSBDSSBDSPShwachman-Diamond syndromeMutationsShwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman–Bodian–Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the SBDS gene have been described. In this report, a summary of documented SDS associated mutations is provided.ElsevierBiblioteca Digital do IPBCosta, ElísioSantos, Rosário2008-02-18T10:53:34Z20082008-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10198/488engCosta, Elísio; Santos, Rosário (2008). Hematologically important mutations: Shwachman–Diamond syndrome.Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 40:2, p.183–1841079-979610.1016/j.bcmd.2007.07.008info: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:RCAAP2023-11-21T10:03:26Zoai:bibliotecadigital.ipb.pt:10198/488Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:54:16.630543Repositório 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 Hematologically important mutations: Shwachman–Diamond syndrome
title Hematologically important mutations: Shwachman–Diamond syndrome
spellingShingle Hematologically important mutations: Shwachman–Diamond syndrome
Costa, Elísio
SBDS
SBDSP
Shwachman-Diamond syndrome
Mutations
title_short Hematologically important mutations: Shwachman–Diamond syndrome
title_full Hematologically important mutations: Shwachman–Diamond syndrome
title_fullStr Hematologically important mutations: Shwachman–Diamond syndrome
title_full_unstemmed Hematologically important mutations: Shwachman–Diamond syndrome
title_sort Hematologically important mutations: Shwachman–Diamond syndrome
author Costa, Elísio
author_facet Costa, Elísio
Santos, Rosário
author_role author
author2 Santos, Rosário
author2_role author
dc.contributor.none.fl_str_mv Biblioteca Digital do IPB
dc.contributor.author.fl_str_mv Costa, Elísio
Santos, Rosário
dc.subject.por.fl_str_mv SBDS
SBDSP
Shwachman-Diamond syndrome
Mutations
topic SBDS
SBDSP
Shwachman-Diamond syndrome
Mutations
description Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman–Bodian–Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the SBDS gene have been described. In this report, a summary of documented SDS associated mutations is provided.
publishDate 2008
dc.date.none.fl_str_mv 2008-02-18T10:53:34Z
2008
2008-01-01T00:00:00Z
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/10198/488
url http://hdl.handle.net/10198/488
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Costa, Elísio; Santos, Rosário (2008). Hematologically important mutations: Shwachman–Diamond syndrome.Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 40:2, p.183–184
1079-9796
10.1016/j.bcmd.2007.07.008
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 Elsevier
publisher.none.fl_str_mv Elsevier
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
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