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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Main Authors: Christoph Jüschke (Author), Thomas Klopstock (Author), Claudia B. Catarino (Author), Marta Owczarek-Lipska (Author), Bernd Wissinger (Author), John Neidhardt (Author)
Format: Book
Published: Elsevier, 2021-12-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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