Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Molecular Medicine
Link
http://www.nature.com/articles/gt201593.pdf
Reference47 articles.
1. Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci 2003; 44: 1458–1463.
2. Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N et al. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat 2007; 28: 81–91.
3. Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM et al. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci 2012; 53: 8232–8237.
4. Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG et al. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013; 54: 1411–1416.
5. Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T . A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA 2000; 97: 3649–3654.
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