Browsing by Author "Prescott, De Quincy"

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Browsing by Author "Prescott, De Quincy"

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  • Chakarova, Christina; Papaioannou, Myrto; Khanna, H; Lopez, Irma; Waseem, Naushin; Shah, A; Theis, Torsten; Friedman, J; Maubaret, C; Bujakowska, K; Veraitch, B; El-Aziz, Mm; Prescott, De Quincy; Parapuram, Sk; Bickmore, Wa; Munro, P; Gal, A; Hamel, Cp; Marigo, V; Ponting, Cp; Wissinger, B; Zrenner, E; Matter, K; Swaroop, A; Koenekoop, Robert; Bhattacharya, Shomi (The University of Chicago Press, 2007)
    We report mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31). A positional-cloning approach, ...
  • Papaioannou, Myrto; Chakarova, Christina; Prescott, De Quincy; Waseem, Naushin; Theis, Torsten; Lopez, Irma; Gill, Bhavdip; Koenekoop, Robert; Bhattacharya, Shomi (Springer Verlag, 2005)
    Retinitis pigmentosa (RP) is a debilitating disease of the retina affecting ?1.5 million people worldwide. RP shows remarkable heterogeneity both clinically and genetically, with more than 40 genetic loci implicated, 12 ...