American Journal of Ophthalmology
Volume 149, Issue 5 , Pages 861-866 , May 2010

A Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p

  • Shagufta Naz

      Affiliations

    • National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore Pakistan
    • ,
  • S. Amer Riazuddin

      Affiliations

    • National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore Pakistan
    • ,
  • Lin Li

      Affiliations

    • Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
    • ,
  • Mariam Shahid

      Affiliations

    • National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore Pakistan
    • ,
  • Samra Kousar

      Affiliations

    • National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore Pakistan
    • ,
  • Paul A. Sieving

      Affiliations

    • Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
    • ,
  • J. Fielding Hejtmancik

      Affiliations

    • Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
    • ,
  • Sheikh Riazuddin

      Affiliations

    • National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore Pakistan
    • Corresponding Author InformationInquiries to Sheikh Riazuddin, National Centre of Excellence in Molecular Biology, 87 West Canal Bank Road, Lahore 53700, Pakistan

,Accepted 21 December 2009.

References 

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  2. Bird AC. Retinal photoreceptor dystrophies LI (Edward Jackson Memorial Lecture). Am J Ophthalmol. 1995;119:543–562
  3. Bunker CH, Berson EL, Bromley WC, et al. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984;97:357–365
  4. Bundey S, Crews SJ. A study of retinitis pigmentosa in the city of Birmingham. J Med Genet. 1986;23:188
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  11. Schaffer AA, Gupta SK, Shriram K, Cottingham RW. Avoiding recomputation in linkage analysis. Hum Hered. 1994;44:225–237
  12. Nie Z, Stanley KT, Stauffer S, et al. AGAP1, an endosome-associated, phosphoinositide-dependent ADP-ribosylation factor GTPase-activating protein that affects actin cytoskeleton. J Biol Chem. 2002;277:48965–48975
  13. Moss J, Vaughan M. Molecules in the ARF orbit. J Biol Chem. 1998;273:21431–21434
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PII: S0002-9394(09)00975-1

doi: 10.1016/j.ajo.2009.12.034

American Journal of Ophthalmology
Volume 149, Issue 5 , Pages 861-866 , May 2010

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