Article
Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa.
Molecular vision - 15 Mar 2006
Roberts Lisa, Bartmann Lecia, Ramesar Rajkumar, Greenberg Jacquie
Abstract excerpt
PURPOSE: Mutations in the hotspot of RP1 are reportedly responsible for 4-7% of autosomal dominant retinitis pigmentosa (ADRP) in the United States, Canada, and Europe. South Africa (SA) has unique subpopulations and a comparatively low observed frequency of rhodopsin mutations, which lead to this investigation of the contribution of RP1 mutations to the ADRP disease burden in SA. METHODS: Fifty-seven affected,...
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