Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina
Author:
Funder
National Eye Institute
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference34 articles.
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4. Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS.;Chakraborty;Hum. Mol. Genet.,2010
5. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.;Chang;Hum. Mol. Genet.,2006
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1. On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies;Frontiers in Cell and Developmental Biology;2021-03-05
2. RP2 ‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-09
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