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Genetic Supplementation of RDS Alleviates a Loss-of-function Phenotype in C214S Model of Retinitis Pigmentosa

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Recent Advances in Retinal Degeneration

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 613))

Mutations in the photoreceptor-specific protein, Rds, have been associated with a large number of inherited retinal degenerative diseases. Reports have described the incidence of retinitis pigmentosa, cone-rod dystrophy, diffuse retinal dystrophy, macular degeneration, and central areolar choroidal dystrophy in patients carrying mutations in the RDS gene (Dryja, Hahn, Kajiwara, & Berson, 1997; Ekstrom et al., 1998; Fishman et al., 1997; Fossarello et al., 1996; Jacobson, Cideciyan, Kemp, Sheffield, & Stone, 1996; Nakazawa, Wada, Chida, & Tamai, 1997; Sears, Aaberg, Daiger, & Moshfeghi, 2001; Zhang, Garibaldi, Li, Green, & Zack, 2002). As a membrane glycoprotein located in the disc rim region in the OSs of rods and cones (Connell & Molday, 1990; Molday, Hicks, & Molday, 1987; Travis, Brennan, Danielson, Kozak, & Sutcliffe, 1989).

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Nour, M., Fliesler, S.J., Naash, M.I. (2008). Genetic Supplementation of RDS Alleviates a Loss-of-function Phenotype in C214S Model of Retinitis Pigmentosa. In: Anderson, R.E., LaVail, M.M., Hollyfield, J.G. (eds) Recent Advances in Retinal Degeneration. Advances in Experimental Medicine and Biology, vol 613. Springer, New York, NY. https://doi.org/10.1007/978-0-387-74904-4_14

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  • DOI: https://doi.org/10.1007/978-0-387-74904-4_14

  • Publisher Name: Springer, New York, NY

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  • Online ISBN: 978-0-387-74904-4

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