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Article

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

Scientific reports - 1 Apr 2016

Bravo-Gil Nereida, Méndez-Vidal Cristina, Romero-Pérez Laura, González-del Pozo María, Rodríguez-de la Rúa Enrique, Dopazo Joaquín, Borrego Salud, Antiñolo Guillermo

Abstract excerpt

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 Spanish families with different forms of IRD. With that aim, we implemented a custom NGS panel comprising 64...

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Identifiers

PMID: 27032803
DOI: 10.1038/srep23910
PMCID: PMC4817143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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