dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Shintaku, Jonathan |
dc.contributor.author | Pernice, Wolfgang Maximilian Anton |
dc.contributor.author | Eyaid, Wafaa |
dc.contributor.author | GC, Jeevan |
dc.contributor.author | Brown, Zuben P. |
dc.contributor.author | Juanola-Falgarona, Martí |
dc.contributor.author | Torres Torronteras, Javier |
dc.contributor.author | Martí Seves, Ramón |
dc.date.accessioned | 2022-09-09T07:32:25Z |
dc.date.available | 2022-09-09T07:32:25Z |
dc.date.issued | 2022-07-01 |
dc.identifier.citation | Shintaku 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.issn | 1558-8238 |
dc.identifier.uri | https://hdl.handle.net/11351/8087 |
dc.description | Enfermedades genéticas; Mitocondrias; Patología molecular |
dc.language.iso | eng |
dc.publisher | American Society for Clinical Investigation |
dc.relation.ispartofseries | The Journal of Clinical Investigation;132(13) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Mitocondris - Malalties - Aspectes genètics |
dc.subject | ADN mitocondrial |
dc.subject.mesh | DNA, Mitochondrial |
dc.subject.mesh | Mitochondrial Diseases |
dc.subject.mesh | /genetics |
dc.title | RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1172/JCI145660 |
dc.subject.decs | ADN mitocondrial |
dc.subject.decs | enfermedades mitocondriales |
dc.subject.decs | /genética |
dc.relation.publishversion | https://doi.org/10.1172/JCI145660 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut 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.pmid | 35617047 |
dc.identifier.wos | 000829089900004 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |