The TCF4 Trinucleotide Repeat Expansion of Fuchs’ Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye

PURPOSE: In the United States, 70% of Fuchs’ endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the TCF4 gene. CUG repeat RNA transcripts from this expansion accumulate as nuclear foci in the corneal endothelium. In this study, we sought to detect...

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Detalles Bibliográficos
Autores principales: Hu, Jiaxin, Gong, Xin, Johnson, Samantha T., Corey, David R., Mootha, V. Vinod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Cornea
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204776/
https://www.ncbi.nlm.nih.gov/pubmed/37204786
http://dx.doi.org/10.1167/iovs.64.5.16

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