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Journal Abstract Search

188 related items for PubMed ID: 7670478

  • 21. [Molecular genetic study of congenital stationary night blindness].
    Nakamura M, Miyake Y.
    Nippon Ganka Gakkai Zasshi; 2004 Nov; 108(11):665-73. PubMed ID: 15584351
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  • 22. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 26. [Oguchi disease or stationary congenital night blindness: a case report].
    Boissonnot M, Robert MF, Gilbert-Dussardier B, Dighiero P.
    J Fr Ophtalmol; 2007 Jan 17; 30(1):e2. PubMed ID: 17287664
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  • 28. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS.
    Invest Ophthalmol Vis Sci; 2007 May 17; 48(5):2208-13. PubMed ID: 17460281
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  • 29. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG.
    Nat Genet; 2000 Nov 17; 26(3):319-23. PubMed ID: 11062471
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  • 30. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
    Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM.
    Nat Genet; 1998 Jul 17; 19(3):264-7. PubMed ID: 9662400
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  • 31. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
    Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T.
    Nat Genet; 1994 May 17; 7(1):64-8. PubMed ID: 8075643
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  • 33. Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination.
    Maw M, Kumaramanickavel G, Kar B, John S, Bridges R, Denton M.
    Hum Mutat; 1998 May 17; Suppl 1():S317-9. PubMed ID: 9452120
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  • 38. Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
    Wei X, Li H, Wu S, Zhu T, Sui R.
    Doc Ophthalmol; 2023 Feb 17; 146(1):17-32. PubMed ID: 36417138
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  • 39. Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
    Hayashi T, Goto-Omoto S, Takeuchi T, Gekka T, Ueoka Y, Kitahara K.
    Acta Ophthalmol Scand; 2006 Apr 17; 84(2):254-8. PubMed ID: 16637847
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