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Article

Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.

Ophthalmic genetics - 1 Dec 2021

Duzkale Neslihan, Arslan Umut

Abstract excerpt

BACKGROUND: Inherited retinal dystrophies (IRDs) are a group of retinal diseases genetically and clinically highly heterogeneous and associated with more than 300 genes. This study aims to investigate the genetic basis of Turkish patients with IRDs. MATERIALS AND METHODS: In the study, genes related to retinal diseases in 86 IRDs patients were analyzed using the Next Generations Sequencing method (NGS). RESULTS:...

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PMID: 34315337
DOI: 10.1080/13816810.2021.1952616

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