Abstract
To date twelve loci have been associated with the autosomal dominant form of Retinitis Pigmentosa (adRP). The genes at eleven of these have now been identified (http://www.sph.uth.tmc.edu/Retnet/). One such locus (RP10) is on chromosome 7q and was original identified as a result of a large linkage study undertaken at this laboratory (Jordan et al., 1993). Affected individuals of this family show the classic clinical symptoms of RP, including bone spicule pattern pigmentary deposits, optic disc pallor and retinal vascular attenuation (for a detailed clinical description of this family see Jordan et al., 1993). An unrelated American adRP family, UTAD045, exhibiting a later onset and a slower progression of symptoms, was also subsequently revealed to have a disease gene on the same region of 7q (McGuire et al., 1995).
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Kennan, A. et al. (2003). On the Role of IMPDH1 in Retinal Degeneration. In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Retinal Degenerations. Advances in Experimental Medicine and Biology, vol 533. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0067-4_2
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DOI: https://doi.org/10.1007/978-1-4615-0067-4_2
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