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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
| dc.contributor.author | Bárcena Fernández, Clea | |
| dc.contributor.author | Quesada Fernández, Víctor | |
| dc.contributor.author | Sandre-Giovannoli, Annachiara de | |
| dc.contributor.author | Puente, Diana | |
| dc.contributor.author | Fernández Toral, Joaquín | |
| dc.contributor.author | Velasco Cotarelo, María Gloria | |
| dc.contributor.author | López Otín, Carlos | |
| dc.date.accessioned | 2014-07-31T09:38:24Z | |
| dc.date.available | 2014-07-31T09:38:24Z | |
| dc.date.issued | 2014 | |
| dc.identifier.citation | BMC Medical Genetics, 15(1), p. 1-6 (2014); doi:10.1186/1471-2350-15-51 | |
| dc.identifier.issn | 1471-2350 | |
| dc.identifier.uri | http://hdl.handle.net/10651/28043 | |
| dc.description.sponsorship | This work was supported by grants from Ministerio de Economía y Competitividad-Spain and Red Temática de Investigación del Cáncer (RTICC). | |
| dc.description.sponsorship | This work was supported by grants from Ministerio de Economía y Competitividad-Spain and Red Temática de Investigación del Cáncer (RTICC). C.L-O. is an Investigator of the Botín Foundation. V.Q. is a Ramón y Cajal Investigator with the Consolider-Ingenio RNAREG Consortium. The Instituto Universitario de Oncología is supported by Obra Social Cajastur and Instituto de Salud Carlos III (RTICC). | |
| dc.description.statementofresponsibility | Bárcena, C., Quesada, V., De Sandre-Giovannoli, A., Puente, D.A., Fernández-Toral, J., Sigaudy, S., Baban, A., Lévy, N., Velasco, G., López-Otín, C. | |
| dc.format.extent | p. 1-6 | |
| dc.language.iso | eng | |
| dc.relation.ispartof | BMC Medical Genetics | |
| dc.rights | © Bárcena et al. | |
| dc.rights | CC Reconocimiento - No comercial - Sin obras derivadas 4.0 Internacional | |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.source | Scopus | |
| dc.source.uri | http://www.scopus.com/inward/record.url?eid=2-s2.0-84900537480&partnerID=40&md5=9b1cf5ae2d981a387c8c4acb8cd5093e | |
| dc.title | Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome | eng |
| dc.type | journal article | |
| dc.identifier.local | 20141867 | |
| dc.identifier.doi | 10.1186/1471-2350-15-51 | |
| dc.relation.publisherversion | http://dx.doi.org/10.1186/1471-2350-15-51 | |
| dc.rights.accessRights | open access |
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