Article
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
American journal of human genetics - 1 Jun 2002
Breuer Debra K, Yashar Beverly M, Filippova Elena, Hiriyanna Suja, Lyons Robert H, Mears Alan J, Asaye Bersabell, Acar Ceren, Vervoort Raf, Wright Alan F, Musarella Maria A, Wheeler Patricia, MacDonald Ian, Iannaccone Alessandro, Birch David, Hoffman Dennis R, Fishman Gerald A, Heckenlively John R, Jacobson Samuel G, Sieving Paul A, Swaroop Anand
Abstract excerpt
X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable disease, respectively. However, mutations in the respective genes, RP2 and RPGR, were detected in only 10% and 20% of families with XLRP. Mutations in an alternatively...
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