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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Detalles Bibliográficos
Autores principales: Wieben, Eric D., Baratz, Keith H., Aleff, Ross A., Kalari, Krishna R., Tang, Xiaojia, Maguire, Leo J., Patel, Sanjay V., Fautsch, Michael P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2019
Materias:
Cornea
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716950/
https://www.ncbi.nlm.nih.gov/pubmed/31469403
http://dx.doi.org/10.1167/iovs.19-27689

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