Instability of TCF4 Triplet Repeat Expansion With Parent–Child Transmission in Fuchs' Endothelial Corneal Dystrophy

PURPOSE: Fuchs' endothelial corneal dystrophy (FECD) caused by the CTG triplet repeat expansion in the TCF4 gene (CTG18.1 locus) is the most common repeat expansion disorder. Intergenerational instability of expanded repeats and clinical anticipation are hallmarks of other repeat expansion diso...

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Detalles Bibliográficos
Autores principales: Saade, Joanna S., Xing, Chao, Gong, Xin, Zhou, Zhengyang, Mootha, V. Vinod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2018
Materias:
Cornea
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6088802/
https://www.ncbi.nlm.nih.gov/pubmed/30098193
http://dx.doi.org/10.1167/iovs.18-24119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6088802/
https://www.ncbi.nlm.nih.gov/pubmed/30098193
http://dx.doi.org/10.1167/iovs.18-24119

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