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CEP290 Mutation Linked to Cat Retinal Degeneration by Gál Eleonóra is a document available to read on EtoBox.
What is CEP290 Mutation Linked to Cat Retinal Degeneration about?
A mutation in the CEP290 gene has been identified in Abyssinian cats with autosomal recessive late-onset retinal degeneration (rdAc), providing a model for human retinal diseases. The mutation results in a frameshift and premature truncation of the protein, which parallels similar mutations causing retinal degeneration in humans. This discovery offers potential for developing gene-based therapies for retinal blindness in both cats and humans.
- Author
- Gál Eleonóra
- Language
- EN