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Article

CTG18.1 Expansion is the Best Classifier of Late-Onset Fuchs' Corneal Dystrophy Among 10 Biomarkers in a Cohort From the European Part of Russia

28 Sept 2018

Abstract excerpt

Purpose: To assess the occurrence and diagnostic performance of nine single-nucleotide variants (SNVs) in the TCF4, SLC4A11, LOXHD1, and AGBL1 genes and the CTG18.1 trinucleotide repeat expansion in a Russian cohort of Fuchs' endothelial corneal dystrophy (FECD) patients. Methods: This retrospective case-control study included 100 patients diagnosed with FECD (cases) and 100 patients with cataracts (controls)....

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PMID: 30267097
DOI: 10.1167/iovs.18-24590

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