Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy

PURPOSE: To identify RNA missplicing events in human corneal endothelial tissue isolated from Fuchs' endothelial corneal dystrophy (FECD). METHODS: Total RNA was isolated and sequenced from corneal endothelial tissue obtained during keratoplasty from 12 patients with FECD and 4 patients undergo...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Wieben, Eric D., Aleff, Ross A., Tang, Xiaojia, Butz, Malinda L., Kalari, Krishna R., Highsmith, Edward W., Jen, Jin, Vasmatzis, George, Patel, Sanjay V., Maguire, Leo J., Baratz, Keith H., Fautsch, Michael P.
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2017
Assuntos:
Cornea
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5270622/
https://ncbi.nlm.nih.gov/pubmed/28118661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.16-20900
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