dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Estañ, María Cristina |
dc.contributor.author | Fernández-Núñez, Elisa |
dc.contributor.author | Zaki, Maha S |
dc.contributor.author | Esteban, María Isabel |
dc.contributor.author | Donkervoort, Sandra |
dc.contributor.author | Hawkins, Cynthia |
dc.contributor.author | Tizzano Ferrari, Eduardo Fidel |
dc.date.accessioned | 2019-03-22T12:57:11Z |
dc.date.available | 2019-03-22T12:57:11Z |
dc.date.issued | 2019-02-15 |
dc.identifier.citation | Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, et al. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019;10(1):797. |
dc.identifier.issn | 2041-1723 |
dc.identifier.uri | https://hdl.handle.net/11351/3859 |
dc.description | FXR1; Mutacions; Miopatia |
dc.language.iso | eng |
dc.publisher | Nature Research |
dc.relation.ispartofseries | Nature Communications;10(1) |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
dc.source | Scientia |
dc.subject | Músculs - Malalties |
dc.subject | Mutació (Biologia) |
dc.subject.mesh | Muscular Diseases |
dc.subject.mesh | /genetics |
dc.subject.mesh | Mutation |
dc.title | Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1038/s41467-019-08548-9 |
dc.subject.decs | enfermedades musculares |
dc.subject.decs | /genética |
dc.subject.decs | mutación |
dc.relation.publishversion | https://www.nature.com/articles/s41467-019-08548-9 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Estañ MC] Instituto de Investigaciones Biomédicas "Alberto Sols", Madrid, Spain. CIBER de Enfermedades Raras (CIBERER), Madrid, Spain. [Fernández-Núñez E] Instituto de Investigaciones Biomédicas "Alberto Sols", Madrid, Spain. [Zaki MS] Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt. [Esteban MI] Departamento de Anatomía Patológica, Hospital Universitario La Paz-IdiPaz-UAM, Madrid, Spain. [Donkervoort S] Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. [Hawkins C] Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada. [Tizzano EF] CIBER de Enfermedades Raras (CIBERER), Madrid, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain. |
dc.identifier.pmid | 30770808 |
dc.identifier.wos | WOS:000458755400011 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |