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Jaccoud’s arthropathy in osteogenesis imperfecta

Detalhes bibliográficos
Autor(a) principal: Martins, Frederico Rajão
Data de Publicação: 2024
Outros Autores: Rocha, Margarida Lucas, Chícharo, Ana Teodósio, Teixeira, Vítor Silvestre
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Texto Completo: http://hdl.handle.net/10400.1/26328
Resumo: Type I osteogenesis imperfecta is a genetic disease associated with mutations in the pro-alpha1 chains of type 1 collagen encoder gene COL1A1. It has an autosomal dominant pattern of inheritance, and leads to reduction in the amount of structurally normal collagen and subsequently, disorders of the extracellular membrane of skin, tendons and bone.
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spelling Jaccoud’s arthropathy in osteogenesis imperfectaType I osteogenesis imperfecta is a genetic disease associated with mutations in the pro-alpha1 chains of type 1 collagen encoder gene COL1A1. It has an autosomal dominant pattern of inheritance, and leads to reduction in the amount of structurally normal collagen and subsequently, disorders of the extracellular membrane of skin, tendons and bone.Korean College of RheumatologySapientiaMartins, Frederico RajãoRocha, Margarida LucasChícharo, Ana TeodósioTeixeira, Vítor Silvestre2024-11-23T09:42:12Z2024-02-012024-02-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.1/26328eng2093-940X10.4078/jrd.2023.0090info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-02-18T17:40:42Zoai:sapientia.ualg.pt:10400.1/26328Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T20:31:35.501040Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Jaccoud’s arthropathy in osteogenesis imperfecta
title Jaccoud’s arthropathy in osteogenesis imperfecta
spellingShingle Jaccoud’s arthropathy in osteogenesis imperfecta
Martins, Frederico Rajão
title_short Jaccoud’s arthropathy in osteogenesis imperfecta
title_full Jaccoud’s arthropathy in osteogenesis imperfecta
title_fullStr Jaccoud’s arthropathy in osteogenesis imperfecta
title_full_unstemmed Jaccoud’s arthropathy in osteogenesis imperfecta
title_sort Jaccoud’s arthropathy in osteogenesis imperfecta
author Martins, Frederico Rajão
author_facet Martins, Frederico Rajão
Rocha, Margarida Lucas
Chícharo, Ana Teodósio
Teixeira, Vítor Silvestre
author_role author
author2 Rocha, Margarida Lucas
Chícharo, Ana Teodósio
Teixeira, Vítor Silvestre
author2_role author
author
author
dc.contributor.none.fl_str_mv Sapientia
dc.contributor.author.fl_str_mv Martins, Frederico Rajão
Rocha, Margarida Lucas
Chícharo, Ana Teodósio
Teixeira, Vítor Silvestre
description Type I osteogenesis imperfecta is a genetic disease associated with mutations in the pro-alpha1 chains of type 1 collagen encoder gene COL1A1. It has an autosomal dominant pattern of inheritance, and leads to reduction in the amount of structurally normal collagen and subsequently, disorders of the extracellular membrane of skin, tendons and bone.
publishDate 2024
dc.date.none.fl_str_mv 2024-11-23T09:42:12Z
2024-02-01
2024-02-01T00:00:00Z
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/10400.1/26328
url http://hdl.handle.net/10400.1/26328
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2093-940X
10.4078/jrd.2023.0090
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 Korean College of Rheumatology
publisher.none.fl_str_mv Korean College of Rheumatology
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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