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Journal Abstract Search

280 related items for PubMed ID: 8595413

  • 21. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
    Kajiwara K, Sandberg MA, Berson EL, Dryja TP.
    Nat Genet; 1993 Mar; 3(3):208-12. PubMed ID: 8485575
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  • 22. Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
    Conley SM, Stuck MW, Watson JN, Naash MI.
    Hum Mol Genet; 2017 Feb 01; 26(3):509-518. PubMed ID: 28053051
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  • 32. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
    Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F.
    Nat Genet; 1993 Mar 01; 3(3):213-8. PubMed ID: 8485576
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  • 37. Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.
    Hoyng CB, Heutink P, Testers L, Pinckers A, Deutman AF, Oostra BA.
    Am J Ophthalmol; 1996 Jun 01; 121(6):623-9. PubMed ID: 8644804
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  • 38. Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein.
    Kedzierski W, Weng J, Travis GH.
    J Biol Chem; 1999 Oct 08; 274(41):29181-7. PubMed ID: 10506174
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  • 40. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.
    Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM.
    Arch Ophthalmol; 1993 Nov 08; 111(11):1531-42. PubMed ID: 8240110
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