Rhodopsin Mutations in Sectorial Retinitis Pigmentosa
Nearly 100 mutations in the rhodopsin gene have been described in association with autosomal dominant retinitis pigmentosa (ADRP), autosomal recessive retinitis pigmentosa (ARRP) and congenital stationary night blindness (CSNB), a nonprogressive disease. Additionally, mutations in the rhodopsin gene have been observed in patients with sectorial retinitis pigmentosa (SRP). We set out to determine the prevalence of rhodopsin mutations in sectorial RP, and the nature of the ocular phenotype associated with each mutation. Separately, we have also studied the biochemical phenotype of some of these mutant opsin by expression studies in COS cells.
KeywordsAttenuation Codon Agarose Bromide Cysteine
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