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...
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Elsevier,
2021-12-01T00:00:00Z.
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A1234.567 |
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| Kopie 1 | Beschikbaar |