PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease

Detalhes bibliográficos
Autor(a) principal: Menezes, J
Data de Publicação: 2017
Outros Autores: Ventura, C, Costa, J, Parreira, E, Romão, L
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.10/1980
Resumo: Our results prove that c.1871-14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA-based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice-site variant if present in patients with PS deficiency.
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spelling PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic diseaseProtein S deficiencyThrombosisVenous thromboembolismOur results prove that c.1871-14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA-based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice-site variant if present in patients with PS deficiency.John Wiley and SonsRepositório do Hospital Prof. Doutor Fernando FonsecaMenezes, JVentura, CCosta, JParreira, ERomão, L2018-04-11T10:45:57Z2017-01-01T00:00:00Z2017-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.10/1980engClin Case Rep. 2017 Nov 3;5(12):2062-20652050-090410.1002/ccr3.1226info: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:RCAAP2022-09-20T15:52:42Zoai:repositorio.hff.min-saude.pt:10400.10/1980Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:52:59.780063Repositório 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 PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
title PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
spellingShingle PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
Menezes, J
Protein S deficiency
Thrombosis
Venous thromboembolism
title_short PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
title_full PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
title_fullStr PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
title_full_unstemmed PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
title_sort PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
author Menezes, J
author_facet Menezes, J
Ventura, C
Costa, J
Parreira, E
Romão, L
author_role author
author2 Ventura, C
Costa, J
Parreira, E
Romão, L
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Hospital Prof. Doutor Fernando Fonseca
dc.contributor.author.fl_str_mv Menezes, J
Ventura, C
Costa, J
Parreira, E
Romão, L
dc.subject.por.fl_str_mv Protein S deficiency
Thrombosis
Venous thromboembolism
topic Protein S deficiency
Thrombosis
Venous thromboembolism
description Our results prove that c.1871-14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA-based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice-site variant if present in patients with PS deficiency.
publishDate 2017
dc.date.none.fl_str_mv 2017-01-01T00:00:00Z
2017-01-01T00:00:00Z
2018-04-11T10:45:57Z
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/10400.10/1980
url http://hdl.handle.net/10400.10/1980
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Clin Case Rep. 2017 Nov 3;5(12):2062-2065
2050-0904
10.1002/ccr3.1226
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 John Wiley and Sons
publisher.none.fl_str_mv John Wiley and Sons
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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