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Please use this identifier to cite or link to this item: http://hdl.handle.net/10651/28043

Title: Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
Author(s): Bárcena Fernández, Clea
Quesada Fernández, Víctor
Sandre-Giovannoli, Annachiara de
Puente, Diana
Fernández Toral, Joaquín
Velasco Cotarelo, María Gloria
López Otín, Carlos
Issue date: 2014
Publisher version: http://dx.doi.org/10.1186/1471-2350-15-51
Citation: BMC Medical Genetics, 15(1), p. 1-6 (2014); doi:10.1186/1471-2350-15-51
Format extent: p. 1-6
URI: http://hdl.handle.net/10651/28043
ISSN: 1471-2350
Local identifier: 20141867
Sponsored: This work was supported by grants from Ministerio de Economía y Competitividad-Spain and Red Temática de Investigación del Cáncer (RTICC).
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).
Appears in Collections:Bioquímica y Biología Molecular
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