Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy

PURPOSE: CTG trinucleotide repeat (TNR) expansion in an intron of the TCF4 gene is the most common genetic variant associated with Fuchs' endothelial corneal dystrophy (FECD). Although several mechanisms have been implicated in the disease process, their exact pathophysiologic importance is unc...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Wieben, Eric D., Baratz, Keith H., Aleff, Ross A., Kalari, Krishna R., Tang, Xiaojia, Maguire, Leo J., Patel, Sanjay V., Fautsch, Michael P.
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2019
Assuntos:
Cornea
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6716950/
https://ncbi.nlm.nih.gov/pubmed/31469403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.19-27689
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