Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy

Amplification of a CAG trinucleotide motif (CTG18.1) within the TCF4 gene has been strongly associated with Fuchs Endothelial Corneal Dystrophy (FECD). Nevertheless, a small minority of clinically unaffected elderly patients who have expanded CTG18.1 sequences have been identified. To test the hypot...

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Veröffentlicht in:PLoS One
Hauptverfasser: Wieben, Eric D., Aleff, Ross A., Basu, Shubham, Sarangi, Vivekananda, Bowman, Brett, McLaughlin, Ian J., Mills, John R., Butz, Malinda L., Highsmith, Edward W., Ida, Cristiane M., Ekholm, Jenny M., Baratz, Keith H., Fautsch, Michael P.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2019
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6611681/
https://ncbi.nlm.nih.gov/pubmed/31276570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0219446
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