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CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Genet Med. 2019 Sep;21(9):2092-2102. doi: 10.1038/s41436-019-0453-x. Epub 2019 Feb 8.
Genet Med. 2019.
PMID: 30733599
Free PMC article.
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE.
Zarouchlioti C, et al. Among authors: sanchez pintado b.
Am J Hum Genet. 2018 Apr 5;102(4):528-539. doi: 10.1016/j.ajhg.2018.02.010. Epub 2018 Mar 8.
Am J Hum Genet. 2018.
PMID: 29526280
Free PMC article.
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