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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Publicado en:Invest Ophthalmol Vis Sci
Autores principales: 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
Lenguaje:Inglês
Publicado: The Association for Research in Vision and Ophthalmology 2017
Materias:
Cornea
Acceso en línea: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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