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Filters: Author is Borrego, Salud and Keyword is DNA Mutational Analysis  [Clear All Filters]
2016
Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.
2014
del Pozo MGonzález-, Méndez-Vidal C, Bravo-Gil N, et al. Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One. 2014;9(12):e116176. doi:10.1371/journal.pone.0116176.
Méndez-Vidal C, Bravo-Gil N, del Pozo MGonzález-, et al. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.
2011
del Pozo MGonzález-, Borrego S, Barragán I, et al. Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. PLoS One. 2011;6(12):e27894. doi:10.1371/journal.pone.0027894.
2010
Barragán I, Borrego S, Pieras JIgnacio, et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.