Publication
PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease
| dc.contributor.author | Menezes, J | |
| dc.contributor.author | Ventura, C | |
| dc.contributor.author | Costa, J | |
| dc.contributor.author | Parreira, E | |
| dc.contributor.author | Romão, L | |
| dc.date.accessioned | 2018-04-11T10:45:57Z | |
| dc.date.available | 2018-04-11T10:45:57Z | |
| dc.date.issued | 2017 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Clin Case Rep. 2017 Nov 3;5(12):2062-2065 | pt_PT |
| dc.identifier.doi | 10.1002/ccr3.1226 | pt_PT |
| dc.identifier.issn | 2050-0904 | |
| dc.identifier.uri | http://hdl.handle.net/10400.10/1980 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | John Wiley and Sons | pt_PT |
| dc.relation.publisherversion | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715601/pdf/CCR3-5-2062.pdf | pt_PT |
| dc.subject | Protein S deficiency | pt_PT |
| dc.subject | Thrombosis | pt_PT |
| dc.subject | Venous thromboembolism | pt_PT |
| dc.title | PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Chichester, UK | pt_PT |
| oaire.citation.endPage | 2065 | pt_PT |
| oaire.citation.startPage | 2062 | pt_PT |
| oaire.citation.title | Clinical Case Reports | pt_PT |
| oaire.citation.volume | 5 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |