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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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| Udgivet i: | Invest Ophthalmol Vis Sci |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Association for Research in Vision and Ophthalmology
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6088802/ https://ncbi.nlm.nih.gov/pubmed/30098193 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.18-24119 |
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