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Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?
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Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.
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X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
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Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.
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Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.
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Translational Read-Through Therapy of Nonsense Mutations.
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Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.
Mol Genet Genomic Med. 2020 May;8(5):e1198. doi: 10.1002/mgg3.1198. Epub 2020 Mar 3.
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Ocular Ciliopathies: Genetic and Mechanistic Insights into Developing Therapies.
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Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
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Small molecules as therapeutic agents for inborn errors of metabolism.
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Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.
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Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.
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Nonsense suppression therapies in ocular genetic diseases.
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Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
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