Natural Disease Course in Usher Syndrome Patients Harboring <i>USH2A</i> Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy
The aim of the study was to determine the rate of retinal degeneration in patients with c.2610C>A (p.Cys870*) in <i>USH2A</i> exon 13, amenable to exon skipping therapy. There were nine patients from seven families, three of whom were male (two were homozygous). Seven patients had fol...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-03-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/14/3/652 |