Article
Novel frameshift mutations in the RP2 gene and polymorphic variants.
Human mutation - 1 Jun 2000
Thiselton D L, Zito I, Plant C, Jay M, Hodgson S V, Bird A C, Bhattacharya S S, Hardcastle A J
Abstract excerpt
Mutations in the RP2 gene located on Xp11.23 are associated with X-linked retinitis pigmentosa (XLRP), a severe form of progressive retinal degeneration which leads to complete loss of vision in affected males. To date, 14 different mutations in the RP2 gene have been reported to cause XLRP, the majority of which lead to a coding frameshift within the gene and predicted truncation of the protein product. We here...
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