Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation
Author: | Soria Valles, Clara ; Carrero Muñiz, Dido; Gabau, E.; Velasco Cotarelo, María Gloria; Quesada Fernández, Víctor; Bárcena Fernández, Clea; Moens, M.; Fieggen, K.; Möhrcken, S.; Owens, M.; Álvarez Puente, Diana; Asensio, O.; Loeys, B.; Pérez, Ana; Benoit, V.; Wuyts, W.; Lévy, Nicolas; Hennekam, R. C.; Sandre-Giovannoli, Annachiara de; López Otín, Carlos |
Publication date: | 2016 |
Publisher version: | http://dx.doi.org/10.1136/jmedgenet-2015-103695 |
Citación: | Journal of Medical Genetics, 53(11), p. 776-785 (2016); doi:10.1136/jmedgenet-2015-103695 |
ISSN: | 0022-2593 |
Patrocinado por: |
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 |
Id. Proyecto: |
MINECO/SAF2014-52413-R |
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