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 patie...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2021-12-01
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| Colecção: | Molecular Therapy: Nucleic Acids |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2162253121002626 |
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