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Article

A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies.

Ophthalmic research - 1 Jan 2016

Barandika Olatz, Irigoyen Cristina, Anasagasti Ander, Egiguren Garazi, Ezquerra-Inchausti Maitane, López de Munain Adolfo, Ruiz-Ederra Javier

Abstract excerpt

OBJECTIVE: We developed a simple, time- and cost-effective Excel-based genetic screening strategy for the diagnosis of inherited retinal dystrophies (IRD). DESIGN: 76 patients diagnosed with IRD and 112 nonaffected family members, from 55 unrelated families, were included. DNA samples were analyzed using Axiom Exome Genotyping Array Plates (Affymetrix) that contain over 300,000 genetic variants, including more...

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PMID: 27160245
DOI: 10.1159/000445690

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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