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

Bibliographic Details
Main Author: Menezes, J
Publication Date: 2017
Other Authors: Ventura, C, Costa, J, Parreira, E, Romão, L
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.10/1980
Summary: 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 SonsUnidade Local de Saúde Amadora / SintraMenezes, JVentura, CCosta, JParreira, ERomão, L2018-04-11T10:45:57Z20172017-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.10/1980eng2050-090410.1002/ccr3.1226info: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:RCAAP2025-03-10T15:02:07Zoai:repositorio.hff.min-saude.pt:10400.10/1980Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T01:15:23.871963Repositórios 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 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 Unidade Local de Saúde Amadora / Sintra
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
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 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: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
instacron_str RCAAP
institution RCAAP
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
_version_ 1833600895092260864

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