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Molecular Diagnosis of Mitochondrial Disease with Targeted Next Generation Sequencing: a COhoRT of 250 patients

2019-03-19Documento de conferência Acesso aberto
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dc.contributor.authorNogueira, Celia
dc.contributor.authorLaura, Vilarinho
dc.contributor.authorCristina, Pereira
dc.contributor.authorLisbeth, Silva
dc.contributor.authorElisa, Leão Teles
dc.contributor.authorEsmeralda, Rodrigues
dc.contributor.authorTeresa, Campos
dc.contributor.authorEsmeralda, Martins
dc.contributor.authorAnabela, Bandeira
dc.contributor.authorHelena, Santos
dc.contributor.authorPatricia, Janeiro
dc.contributor.authorAna, Gaspar
dc.date.accessioned2020-05-23T11:15:21Z
dc.date.available2020-05-23T11:15:21Z
dc.date.issued2019-03-19
dc.description.abstractObjectives: The purpose of our project was to develop a NGS strategy to identify the genetic defects in 250 patients suspicious of mitochondrial disorders, to confirm the clinical and biochemical diagnosis of the disease.pt_PT
dc.description.sponsorshipWe would like to thank to FCT (PTDC/DTP-PIC/2220/2014) and NORTE2020 (NORTE-01-0246-FEDER-000014) for funding this Project.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6770
dc.language.isoengpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectMitochondrial Disorderspt_PT
dc.subjectNext Generation Sequencingpt_PT
dc.subjectMolecular Diagnosispt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleMolecular Diagnosis of Mitochondrial Disease with Targeted Next Generation Sequencing: a COhoRT of 250 patientspt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceCoimbra, Portugalpt_PT
oaire.citation.title23nd Annual Meeting of the Portuguese Society of Human Genetics, 14-16 Novembro 2019pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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