dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Carreño Gago, Lidia |
dc.contributor.author | Blazquez Bermejo, Cora |
dc.contributor.author | Díaz-Manera, Jordi |
dc.contributor.author | Cámara Navarro, Yolanda |
dc.contributor.author | Gallardo, Eduard |
dc.contributor.author | Martí Seves, Ramón |
dc.contributor.author | Torres Torronteras, Javier |
dc.contributor.author | García Arumí, Elena |
dc.date.accessioned | 2019-08-23T05:48:14Z |
dc.date.available | 2019-08-23T05:48:14Z |
dc.date.issued | 2019-06-14 |
dc.identifier.citation | Carreño-Gago L, Blázquez-Bermejo C, Díaz-Manera J, Cámara Y, Gallardo E, Martí R, et al. Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions. Front Genet. 2019;10:576. |
dc.identifier.issn | 1664-8021 |
dc.identifier.uri | https://hdl.handle.net/11351/4270 |
dc.description | RNASEH1; Malaltia mitocondrial; ADN mitocondrial |
dc.description.sponsorship | This work was supported by the Spanish Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias and cofunded with ERDF funds (Grant No. FIS PI15/01428 to EG-A and FIS PI18/01574 to RM), the Spanish Ministry of Industry, Economy and Competitiveness (Grant No. SAF2017-87506-R to YC), and the Generalitat de Catalunya (a grant from the URDCat project PERIS to EG-A and RM). JT-T was funded by a fellowship granted by the Generalitat de Catalunya (PERIS program, SLT002/16/00370) |
dc.language.iso | eng |
dc.publisher | Frontiers Media |
dc.relation.ispartofseries | Frontiers in Genetics;10 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Ulls - Malalties - Aspectes genètics |
dc.subject | ADN mitocondrial - Malformacions |
dc.subject | Ribonucleases |
dc.subject.mesh | Ophthalmoplegia |
dc.subject.mesh | /genetics |
dc.subject.mesh | DNA, Mitochondrial |
dc.subject.mesh | Sequence Deletion |
dc.subject.mesh | Ribonuclease H |
dc.title | Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.3389/fgene.2019.00576 |
dc.subject.decs | oftalmoplejía |
dc.subject.decs | /genética |
dc.subject.decs | ADN mitocondrial |
dc.subject.decs | deleción de secuencias |
dc.subject.decs | ribonucleasa H |
dc.relation.publishversion | https://www.frontiersin.org/articles/10.3389/fgene.2019.00576/full |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Carreño-Gago L, Blázquez-Bermejo C, Cámara Y, Martí R, Torres-Torronteras J] Departament de Patologia Mitocondrial i Neuromuscular, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. [Díaz-Manera J, Gallardo E] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. Servei de Neurologia, Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Institut de Recerca de HSCSP, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. [García-Arumí E] Departament de Patologia Mitocondrial i Neuromuscular, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain |
dc.identifier.pmid | 31258551 |
dc.identifier.wos | WOS:000472057300001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |