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Journal Abstract Search

325 related items for PubMed ID: 16961972

  • 21. [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].
    Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH.
    Ophthalmologe; 2004 Aug; 101(8):830-5. PubMed ID: 15459792
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  • 26. Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
    Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R.
    Mol Vis; 2010 Apr 29; 16():774-81. PubMed ID: 20454696
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  • 28. CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions.
    Dai G, Varnum MD.
    Am J Physiol Cell Physiol; 2013 Jul 15; 305(2):C147-59. PubMed ID: 23552282
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  • 30. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
    Nakamura M, Ito S, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2001 Jun 15; 42(7):1610-6. PubMed ID: 11381068
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  • 32. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
    Wiszniewski W, Lewis RA, Lupski JR.
    Hum Genet; 2007 May 15; 121(3-4):433-9. PubMed ID: 17265047
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  • 33. [A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia].
    Burgueño-Montañés C, Colunga Cueva M, Costales Álvarez C.
    Arch Soc Esp Oftalmol; 2014 Mar 15; 89(3):107-9. PubMed ID: 24269407
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  • 35. Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
    Yang P, Michaels KV, Courtney RJ, Wen Y, Greninger DA, Reznick L, Karr DJ, Wilson LB, Weleber RG, Pennesi ME.
    JAMA Ophthalmol; 2014 Jul 15; 132(7):823-31. PubMed ID: 24676353
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  • 36. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
    Jiang L, Katz BJ, Yang Z, Zhao Y, Faulkner N, Hu J, Baird J, Baehr W, Creel DJ, Zhang K.
    Mol Vis; 2005 Feb 20; 11():143-51. PubMed ID: 15735604
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  • 39. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
    Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.
    Ophthalmology; 2005 Aug 20; 112(8):1442-7. PubMed ID: 15953638
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