Article

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by mutations in <i>USH2A</i> exon 13

2020-10-07

Abstract excerpt

Mutations in USH2A , encoding usherin, are the most common cause of syndromic and non-syndromic retinitis pigmentosa (RP). The two founder mutations in exon 13 (c.2299delG and c.2276G>T) collectively account for ~ 34% of USH2A -associated RP cases. Skipping of exon 13 from the USH2A transcript during pre-mRNA splicing presents a potential treatment modality in which the resulting transcript is predicted to enc...

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Literature Corpus work: ae27b1ea-600c-59b7-aa13-8040faa9d421
DOI: 10.1101/2020.10.06.320499

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