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Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis

2017-09-06Conference object Open access
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dc.contributor.authorNogueira, Célia
dc.contributor.authorVilarinho, Laura
dc.contributor.authorPereira, Cristina
dc.contributor.authorSilva, Lisbeth
dc.contributor.authorVieira, Luis
dc.contributor.authorLeão Teles, Elisa
dc.contributor.authorRodrigues, Esmeralda
dc.contributor.authorCampos, Teresa
dc.contributor.authorJaneiro, Patrícia
dc.contributor.authorCosta, Claúdia
dc.contributor.authorGaspar, Ana
dc.contributor.authorSoares, Gabriela
dc.contributor.authorBandeira, Anabela
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorMagalhães, Marina
dc.contributor.authorSequeira, Sílvia
dc.contributor.authorVieira, José Pedro
dc.contributor.authorSantos, Helena
dc.date.accessioned2018-04-04T15:27:18Z
dc.date.available2018-04-04T15:27:18Z
dc.date.issued2017-09-06
dc.descriptionAbstract publicado em: Journal of Inborn Errors of Metabolism and Screening (Special Supplement), 2017.pt_PT
dc.description.abstractObjectives: The overall aim of our research project was to develop a Next Generation Sequencing strategy to identify nuclear disease causing-mutations in patients suspicious of mitochondrial disorders but without molecular etiology.pt_PT
dc.description.sponsorshipThis Research Project is support by FCT (Fundação da Ciência e Tecnologia) (PTDC/DTP-PIC/2220/2014). MiSeq Illumina instrument - This Research Project is support by NORTE2020 (NORTE-01-0246-FEDER-000014 DESVENDAR “DEScobrir, VENcer as Doenc¸as rARas”).
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5529
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttp://www.iciem2017.org/files/JIEMS_Special_Supplement_with_ICIEM_2017_Abstracts.pdfpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectNGSpt_PT
dc.subjectMitochondrial diseasespt_PT
dc.titleNext Generation Sequencing Improves Mitochondrial Diseases Diagnosispt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceRio de Janeiro, Brasilpt_PT
oaire.citation.title13th International Congress of Inborn Errors of Metabolism - ICIEM 2017, 5-8 September 2017pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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