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Journal Abstract Search

173 related items for PubMed ID: 8673138

  • 21. 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; 19(3):264-7. PubMed ID: 9662400
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  • 25. 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; 42(7):1610-6. PubMed ID: 11381068
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  • 29. Network and atomistic simulations unveil the structural determinants of mutations linked to retinal diseases.
    Mariani S, Dell'Orco D, Felline A, Raimondi F, Fanelli F.
    PLoS Comput Biol; 2013 Jun; 9(8):e1003207. PubMed ID: 24009494
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  • 30. Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.
    Colozo AT, Vasudevan S, Park PS.
    Hum Mol Genet; 2020 Apr 15; 29(6):881-891. PubMed ID: 31960909
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  • 32. A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
    Zeitz C, Méjécase C, Stévenard M, Michiels C, Audo I, Marmor MF.
    Biomed Res Int; 2018 Apr 15; 2018():7694801. PubMed ID: 29850563
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  • 35. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
    Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A.
    Nat Genet; 1998 Jul 15; 19(3):260-3. PubMed ID: 9662399
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  • 40. Congenital stationary night blindness and a "Schubert-Bornschein" type electrophysiology in a family with dominant inheritance.
    Kabanarou SA, Holder GE, Fitzke FW, Bird AC, Webster AR.
    Br J Ophthalmol; 2004 Aug 15; 88(8):1018-22. PubMed ID: 15258017
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