References
- Seabra MC, Brown MS, Slaughter CA, et al. Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell 1992;70:1049–1057
- Seabra MC, Brown MS, Goldstein JL. Retinal degeneration in choroideremia: deficiency of Rab geranylgeranyl transferase. Science 1993;259:377–381
- MacDonald IM, Mah DY, Ho YK, et al. A practical diagnostic test for choroideremia. Ophthalmology 1998;105:1637–1640
- McTaggart KE, Tran M, Mah DY, et al. Mutational analysis of patients with the diagnosis of choroideremia. Human Mutation 2002;20:189–196
- Preising MN, Ayuso C. Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet 2004;25:101–110
- Sergeev YV, Smaoui N, Sui R, et al. The functional effect of pathogenic mutations in Rab escort protein 1. Mutat Res 2009;665:44–50
- Synthetic probe design. MRC Holland. Available at: http://www.mrcholland.com/WebForms/WebFormMain.aspx?Tag=zjCZBtdOUyAt3KF3EwRZhAPz9QEm7akikAm7AOEGw1vtZvffaZPOiSig8uqel7Yd [last accessed 9 May 2012]
- Zhi J, Hatchwell E. Human MLPA probe design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays. BMC Genomics 2008;9:407–413
- Human MLPA probe design. H-MAPD. Available at: http://www.webcitation.org/query.php?url=http://genomics01.arcan.stonybrook.edu/mlpa/cgi-bin/mlpa.cgi&refdoi=10.1186/1471-2164-9-407 [last accessed 9 May 2012]