| 1 | RP87, RPE65 |
| Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa. | |
| Jauregui R, Park KS, Tsang SH. | |
| Ophthalmic Genet Aug;39(4):544-549. doi: 10.1080/13816810.2018.1484929 2018 | |
| 2 | RP87, RPE65 |
| A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement | |
| Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P. | |
| Eur J Hum Genet Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1109. 2011 | |