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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorShintaku, Jonathan
dc.contributor.authorPernice, Wolfgang Maximilian Anton
dc.contributor.authorEyaid, Wafaa
dc.contributor.authorGC, Jeevan
dc.contributor.authorBrown, Zuben P.
dc.contributor.authorJuanola-Falgarona, Martí
dc.contributor.authorTorres Torronteras, Javier
dc.contributor.authorMartí Seves, Ramón
dc.date.accessioned2022-09-09T07:32:25Z
dc.date.available2022-09-09T07:32:25Z
dc.date.issued2022-07-01
dc.identifier.citationShintaku J, Pernice WM, Eyaid W, GC JB, Brown ZP, Juanola-Falgarona M, et al. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. J Clin Invest. 2022 Jul 1;132(13):e145660.
dc.identifier.issn1558-8238
dc.identifier.urihttp://hdl.handle.net/11351/8087
dc.descriptionEnfermedades genéticas; Mitocondrias; Patología molecular
dc.language.isoeng
dc.publisherAmerican Society for Clinical Investigation
dc.relation.ispartofseriesThe Journal of Clinical Investigation;132(13)
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectMitocondris - Malalties - Aspectes genètics
dc.subjectADN mitocondrial
dc.subject.meshDNA, Mitochondrial
dc.subject.meshMitochondrial Diseases
dc.subject.mesh/genetics
dc.titleRRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1172/JCI145660
dc.subject.decsADN mitocondrial
dc.subject.decsenfermedades mitocondriales
dc.subject.decs/genética
dc.relation.publishversionhttps://doi.org/10.1172/JCI145660
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Shintaku J, Pernice WM, Juanola-Falgarona M] Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center, New York, New York, USA. [Eyaid W] Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Riyadh, Saudi Arabia. [GC JB, Brown ZP] Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York, USA. [Torres-Torronteras J, Marti R] Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. Grups de Recerca en Malalties Neuromusculars i Mitocondrials, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain
dc.identifier.pmid35617047
dc.identifier.wos000829089900004
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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