Article
Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy.
PloS one - 1 Jan 2021
Wieben Eric D, Aleff Ross A, Rinkoski Tommy A, Baratz Keith H, Basu Shubham, Patel Sanjay V, Maguire Leo J, Fautsch Michael P
Abstract excerpt
Expansion of CTG trinucleotide repeats (TNR) in the transcription factor 4 (TCF4) gene is highly associated with Fuchs Endothelial Corneal Dystrophy (FECD). Due to limitations in the availability of DNA from diseased corneal endothelium, sizing of CTG repeats in FECD patients has typically been determined using DNA samples isolated from peripheral blood leukocytes. However, it is non-feasible to extract enough...
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