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Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
Autosomal dominant optic atrophy (ADOA) is frequently caused by mutations in the optic atrophy 1 (OPA1) gene, with haploinsufficiency being the major genetic pathomechanism. Almost 30% of the OPA1-associated cases suffer from splice defects. We identified a novel OPA1 mutation, c.1065+5G>A, in pa...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society of Gene & Cell Therapy
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604756/ https://www.ncbi.nlm.nih.gov/pubmed/34853716 http://dx.doi.org/10.1016/j.omtn.2021.10.019 |