Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel

Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal Dystrophies (IRD) such as the high clinical and genetic heterogeneity and the overlapping phenotypes. The purpose of this study was the identification of the genetic defect in 32 Spani...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Romero-Pérez, Laura, González-del Pozo, María, Rodríguez-de la Rúa, Enrique, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4817143/
https://ncbi.nlm.nih.gov/pubmed/27032803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep23910
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