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References

These sources were used to develop the Genetics Home Reference gene summary on the PRPH2 gene.

Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008 Mar;27(2):213-35. doi: 10.1016/j.preteyeres.2008.01.002. Epub 2008 Jan 26. Review. PubMed citation
Chung M, Lotery AJ. Genetics update of macular diseases. Ophthalmol Clin North Am. 2002 Dec;15(4):459-65. Review. PubMed citation
Entrez Gene
Felbor U, Schilling H, Weber BH. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat. 1997;10(4):301-9. PubMed citation
Francis PJ, Schultz DW, Gregory AM, Schain MB, Barra R, Majewski J, Ott J, Acott T, Weleber RG, Klein ML. Genetic and phenotypic heterogeneity in pattern dystrophy. Br J Ophthalmol. 2005 Sep;89(9):1115-9. PubMed citation
Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Ophthalmology. 2005 Sep;112(9):1592-8. PubMed citation
Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17(1):42-51. PubMed citation
Wang Q, Chen Q, Zhao K, Wang L, Wang L, Traboulsi EI. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet. 2001 Sep;22(3):133-54. Review. PubMed citation
Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213-8. PubMed citation
Yang Z, Lin W, Moshfeghi DM, Thirumalaichary S, Li X, Jiang L, Zhang H, Zhang S, Kaiser PK, Traboulsi EI, Zhang K. A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. Am J Ophthalmol. 2003 Feb;135(2):213-8. PubMed citation
Yang Z, Li Y, Jiang L, Karan G, Moshfeghi D, O'Connor S, Li X, Yu Z, Lewis H, Zack D, Jacobson S, Zhang K. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. Ophthalmic Genet. 2004 Jun;25(2):133-45. PubMed citation
Zhang K, Garibaldi DC, Li Y, Green WR, Zack DJ. Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report. Arch Ophthalmol. 2002 Apr;120(4):485-90. PubMed citation


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