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Journal Abstract Search

204 related items for PubMed ID: 7825692

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  • 2. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
    Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR.
    Ophthalmology; 1994 Aug; 101(8):1409-21. PubMed ID: 8058286
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  • 8. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
    Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J.
    Am J Ophthalmol; 1996 Jan; 121(1):19-25. PubMed ID: 8554077
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  • 10. Mutation analysis of the ROM1 gene in retinitis pigmentosa.
    Bascom RA, Liu L, Heckenlively JR, Stone EM, McInnes RR.
    Hum Mol Genet; 1995 Oct; 4(10):1895-902. PubMed ID: 8595413
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  • 12. Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.
    Nakazawa M, Kikawa E, Kamio K, Chida Y, Shiono T, Tamai M.
    Arch Ophthalmol; 1994 Dec; 112(12):1567-73. PubMed ID: 7993211
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  • 13. Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.
    Matias-Florentino M, Ayala-Ramirez R, Graue-Wiechers F, Zenteno JC.
    Curr Eye Res; 2009 Dec; 34(12):1050-6. PubMed ID: 19958124
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  • 15. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.
    Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E.
    Br J Ophthalmol; 1995 Jan; 79(1):28-34. PubMed ID: 7880786
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  • 20. Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.
    Nakazawa M, Kikawa E, Chida Y, Tamai M.
    Hum Mol Genet; 1994 Jul; 3(7):1195-6. PubMed ID: 7981698
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