Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.

Amplification of a CAG trinucleotide motif (CTG18.1) within the TCF4 gene has been strongly associated with Fuchs Endothelial Corneal Dystrophy (FECD). Nevertheless, a small minority of clinically unaffected elderly patients who have expanded CTG18.1 sequences have been identified. To test the hypot...

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Bibliographic Details
Main Authors: Eric D Wieben, Ross A Aleff, Shubham Basu, Vivekananda Sarangi, Brett Bowman, Ian J McLaughlin, John R Mills, Malinda L Butz, Edward W Highsmith, Cristiane M Ida, Jenny M Ekholm, Keith H Baratz, Michael P Fautsch
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0219446