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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Bibliografiska uppgifter
I publikationen:PLoS One
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2019
Ämnen:
Research Article
Länkar: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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