1 | OFD1, RP23 |
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). | |
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. | |
Hum Mol Genet 21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. 2012 | |
2 | RP23 |
Evidence for a new locus for X-linked retinitis pigmentosa (RP23). | |
Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS. | |
Invest Ophthalmol Vis Sci 41(8):2080-6. 2000 | |
3 | RP23, RP24 |
A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. | |
Gieser L, et al. | |
Am J Hum Genet 63 : 1439-1447. 1998 | |