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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Publicat a:PLoS One
Autors principals: 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
Idioma:Inglês
Publicat: Public Library of Science 2019
Matèries:
Research Article
Accés en línia: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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