| 1 | BEST1, RP50 |
| Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. | |
| Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD. | |
| Am J Hum Genet 85(5):581-92. Epub 2009 Oct 22.PMID: 19853238 2009 | |