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Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA CEP290 patients.

Andrea L MinellaKristina Narfström WiechelSimon M Petersen-Jones
Published in: Veterinary ophthalmology (2022)
The comparably milder phenotype of CEP290 mutant cats is likely due to the retained production of some full-length CEP290 protein with possible functional contributions from presence of truncated protein.
Keyphrases
  • end stage renal disease
  • newly diagnosed
  • ejection fraction
  • chronic kidney disease
  • protein protein
  • peritoneal dialysis
  • amino acid
  • binding protein
  • wild type