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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Romero-Pérez, Laura, González-del Pozo, María, Rodríguez-de la Rúa, Enrique, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2016
Aiheet:
Article
Linkit: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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