Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA CEP290 patients
Author:
Affiliation:
1. Department of Small Animal Clinical Sciences, College of Veterinary Medicine Michigan State University East Lansing Michigan USA
2. Department of Medicine and Surgery, College of Veterinary Medicine University of Missouri Columbia Mssouri USA
Publisher
Wiley
Subject
General Veterinary
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/vop.13052
Reference45 articles.
1. Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
2. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
3. Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome
4. CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders
5. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome
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