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 | Zendy

Lyubov Skorodumova | Zendy; A. V. Belodedova | Zendy; O. P. Antonova | Zendy; Elena I. Sharova | Zendy; Tatiana A. Akopian | Zendy; Oksana V. Selezneva | Zendy; Elena Kostryukova | Zendy; Boris Malyugin | Zendy

Open Access

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

Author(s) -

Lyubov Skorodumova,

A. V. Belodedova,

O. P. Antonova,

Elena I. Sharova,

Tatiana A. Akopian,

Oksana V. Selezneva,

Elena Kostryukova,

Boris Malyugin

Publication year - 2018

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.18-24590

Subject(s) - trinucleotide repeat expansion , sanger sequencing , allele , cohort , genetics , corneal dystrophy , biology , genotype , snp , single nucleotide polymorphism , medicine , dna sequencing , gene , ophthalmology , cornea

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.

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