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Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation
| dc.contributor.author | Soria Valles, Clara | |
| dc.contributor.author | Carrero Muñiz, Dido | |
| dc.contributor.author | Gabau, E. | |
| dc.contributor.author | Velasco Cotarelo, María Gloria | |
| dc.contributor.author | Quesada Fernández, Víctor | |
| dc.contributor.author | Bárcena Fernández, Clea | |
| dc.contributor.author | Moens, M. | |
| dc.contributor.author | Fieggen, K. | |
| dc.contributor.author | Möhrcken, S. | |
| dc.contributor.author | Owens, M. | |
| dc.contributor.author | Álvarez Puente, Diana | |
| dc.contributor.author | Asensio, O. | |
| dc.contributor.author | Loeys, B. | |
| dc.contributor.author | Pérez, Ana | |
| dc.contributor.author | Benoit, V. | |
| dc.contributor.author | Wuyts, W. | |
| dc.contributor.author | Lévy, Nicolas | |
| dc.contributor.author | Hennekam, R. C. | |
| dc.contributor.author | Sandre-Giovannoli, Annachiara de | |
| dc.contributor.author | López Otín, Carlos | |
| dc.date.accessioned | 2017-02-01T07:41:00Z | |
| dc.date.available | 2017-02-01T07:41:00Z | |
| dc.date.issued | 2016 | |
| dc.identifier.citation | Journal of Medical Genetics, 53(11), p. 776-785 (2016); doi:10.1136/jmedgenet-2015-103695 | |
| dc.identifier.issn | 0022-2593 | |
| dc.identifier.uri | http://hdl.handle.net/10651/40070 | |
| dc.description.sponsorship | This work was supported by grants from Ministerio de Economia y Competitividad-Spain (grant number SAF2014-52413-R), Gobierno del Principado de Asturias, Instituto de Salud Carlos III (RTICC), (grant number RD12/0036/0067) Spain, and EDP Foundation. We also thank the generous support by JI Cabrera. The Instituto Universitario de Oncologia is supported by Fundacion Bancaria Caja de Ahorros de Asturias. CL-O is an Investigator of the Botin Foundation supported by Banco Santander through its Santander Universities Global Division | |
| dc.language.iso | eng | |
| dc.relation.ispartof | Journal of Medical Genetics, 53 | |
| dc.rights | ©, | |
| dc.source | Scopus | |
| dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84979085129&partnerID=40&md5=8d3d90511396b3f70d5d3b6e1ef89f60 | |
| dc.title | Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation | |
| dc.type | journal article | |
| dc.identifier.doi | 10.1136/jmedgenet-2015-103695 | |
| dc.relation.projectID | MINECO/SAF2014-52413-R | |
| dc.relation.publisherversion | http://dx.doi.org/10.1136/jmedgenet-2015-103695 |
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