dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Xiol, Clara |
dc.contributor.author | Vidal, Sílvia |
dc.contributor.author | Pascual-Alonso, Ainhoa |
dc.contributor.author | Blasco, Laura |
dc.contributor.author | Brandi, Núria |
dc.contributor.author | Pacheco, Paola |
dc.contributor.author | Rett Working Group |
dc.date.accessioned | 2020-03-04T12:17:26Z |
dc.date.available | 2020-03-04T12:17:26Z |
dc.date.issued | 2019-08-19 |
dc.identifier.citation | Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, et al. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. Sci Rep. 2019 Aug 19;9(1):11983. |
dc.identifier.issn | 2045-2322 |
dc.identifier.uri | https://hdl.handle.net/11351/4699 |
dc.description | Síndrome de Rett; Inactivació del cromosoma X; Gen MECP2 |
dc.description.sponsorship | The work was supported by grants from the Spanish Ministry of Health (Instituto de Salud Carlos III/FEDER, PI15/01159); Crowdfunding program PRECIPITA, from the Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnologia); the Catalan Association for Rett Syndrome; Fondobiorett and Mi Princesa Rett. |
dc.language.iso | eng |
dc.publisher | Nature Publishing Group |
dc.relation.ispartofseries | Scientific Reports;9(1) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Rett, Síndrome de |
dc.subject | Transcripció genètica - Regulació |
dc.subject | Cromosoma X |
dc.subject.mesh | Rett Syndrome |
dc.subject.mesh | X Chromosome Inactivation |
dc.subject.mesh | Methyl-CpG-Binding Protein 2 |
dc.title | X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1038/s41598-019-48385-w |
dc.subject.decs | síndrome de Rett |
dc.subject.decs | inactivación del cromosoma X |
dc.subject.decs | proteína 2 de unión a metil-CpG |
dc.relation.publishversion | https://www.nature.com/articles/s41598-019-48385-w |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.authoraffiliation | [Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Pacheco P] Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain. [Brandi N] Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain |
dc.identifier.pmid | 31427717 |
dc.identifier.wos | 000481590200024 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/PI15%2F01159 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |