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Next generation sequencing: a golden tool in mitochondrial diseases

2018-06-05Conference object Restricted access
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dc.contributor.authorNogueira, Celia
dc.contributor.authorPereira, Cristina
dc.contributor.authorSilva, Lisbeth
dc.contributor.authorVieira, Luis
dc.contributor.authorLeão Teles, Elisa
dc.contributor.authorCampos, Teresa
dc.contributor.authorRodrigues, Esmeralda
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorBandeira, Anabela
dc.contributor.authorSoares, Gabriela
dc.contributor.authorJaneiro, Patricia
dc.contributor.authorCosta, Claudia
dc.contributor.authorGaspar, Ana
dc.contributor.authorSantos, Helena
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2019-04-08T10:15:11Z
dc.date.available2019-04-08T10:15:11Z
dc.date.issued2018-06-05
dc.description.abstractThe development of Next Generation Sequencing (NGS) has revolutionized the diagnostic approach of mitochondrial disorders, particularly in children. The purpose of our project is to develop a NGS strategy to identify the genetic defect in 250 patients, to confirm the clinical diagnosis of the disease.pt_PT
dc.description.sponsorship*This Research Project is support by FCT (Fundação da Ciência e Tecnologia) (PTDC/DTP-PIC/2220/2014) and NORTE2020 (NORTE-01-0246-FEDER-000014 DESVENDAR “DEScobrir, VENcer as Doenças rARas”pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6368
dc.language.isoengpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectMitochondrial Diseasespt_PT
dc.subjectGene Panelpt_PT
dc.subjectmtDNApt_PT
dc.subjectNuclear Genespt_PT
dc.subjectNext Generation Sequencingpt_PT
dc.subjectNGSpt_PT
dc.subjectDiagnosispt_PT
dc.subjectDoenças Mitocondriaispt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleNext generation sequencing: a golden tool in mitochondrial diseasespt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/COMPETE/EXPL%2FBIM-MEC%2F2220%2F2013/PT (2014)
oaire.citation.conferencePlaceSan Diego, CA, USApt_PT
oaire.citation.titleCell Symposia: Multifaceted Mitochondria, 4-6 June 2018pt_PT
oaire.fundingStreamCOMPETE
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isProjectOfPublication5b610eb3-77d4-403b-a075-3f7d69ac4203
relation.isProjectOfPublication.latestForDiscovery5b610eb3-77d4-403b-a075-3f7d69ac4203

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