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N.H. Waseem, A. Perkins, B. Scott, E. Winchester, S. Jenkins, A. Webster, A.C. Bird, S.S. Bhattacharya; Identification of Novel RHO Mutations in Patients with Autosomal Dominant Retinitis Pigmentosa . Invest. Ophthalmol. Vis. Sci. 2004;45(13):2448.
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Purpose:To perform mutational screen of Rhodopsin on patients with suggestive autosomal dominant retinitis pigmentosa and to estimate the prevalence in the UK population. Methods:Five exons of Rhodopsin along with the flanking regions were screened for mutation by direct nucleotide sequencing of PCR products. Results:Probands from 192 independent ADRP families were screened for changes in the Rhodopsin gene. Twenty one changes were identified in this panel, with six being novel. These alterations are scattered along the entire Rhodopsin gene. Conclusions:Ten percent of ADRP patients showed mutations in Rhodopsin gene, of which 20% were new changes
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