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Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome
| dc.contributor.author | Suárez Puente, Xosé Antón | |
| dc.contributor.author | Quesada Fernández, Víctor | |
| dc.contributor.author | García Osorio, Fernando | |
| dc.contributor.author | Cabanillas Farpón, Rubén | |
| dc.contributor.author | Cadiñanos Bañales, Juan | |
| dc.contributor.author | Martínez Fraile, Julia | |
| dc.contributor.author | Rodríguez Ordóñez, Gonzalo | |
| dc.contributor.author | Álvarez Puente, Diana | |
| dc.contributor.author | Fanjul Fernández, Miriam | |
| dc.contributor.author | Lévy, Nicolas | |
| dc.contributor.author | Pérez Freije, José María | |
| dc.contributor.author | López Otín, Carlos | |
| dc.contributor.author | Gutiérrez Fernández, Ana Yolanda | |
| dc.date.accessioned | 2013-01-30T10:09:49Z | |
| dc.date.available | 2013-01-30T10:09:49Z | |
| dc.date.issued | 2011 | |
| dc.identifier.citation | American Journal of Human Genetics, 88(5), p. 650-656 (2011); doi:10.1016/j.ajhg.2011.04.010 | spa |
| dc.identifier.issn | 0002-9297 | |
| dc.identifier.uri | http://hdl.handle.net/10651/8778 | |
| dc.description.sponsorship | This work has been supported by grants from Ministerio de Ciencia e Innovación-Spain, PCTI-FICYT Asturias, Fundación Centro Médico de Asturias, Fundación María Cristina Masaveu Peterson, and the European Union (FP7 Micro- EnviMet). C.L-O. is an investigator in the Botin Foundation. The Instituto Universitario de Oncología is supported by Obra Social Cajastur and Acción Transversal del Cáncer-RTICC | |
| dc.format.extent | p. 650-656 | spa |
| dc.language.iso | eng | |
| dc.publisher | Elsevier | |
| dc.relation.ispartof | American Journal of Human Genetics, 88(5) | spa |
| dc.rights | © American Journal of Human Genetics | |
| dc.title | Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome | spa |
| dc.type | journal article | |
| dc.identifier.local | 20110600 | spa |
| dc.identifier.doi | 10.1016/j.ajhg.2011.04.010 | |
| dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/201279 | |
| dc.relation.publisherversion | http://dx.doi.org/10.1016/j.ajhg.2011.04.010 | |
| dc.rights.accessRights | open access |
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