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Journal Abstract Search

280 related items for PubMed ID: 8595413

  • 1. 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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  • 3. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.
    Kajiwara K, Berson EL, Dryja TP.
    Science; 1994 Jun 10; 264(5165):1604-8. PubMed ID: 8202715
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  • 4. Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance.
    Runte M, Dekomien G, Epplen JT.
    Anim Genet; 2000 Jun 10; 31(3):223-7. PubMed ID: 10895316
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  • 10. [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].
    Millá E, Héon E, Piguet B, Ducrey N, Butler N, Stone E, Schorderet DF, Munier F.
    Klin Monbl Augenheilkd; 1998 May 10; 212(5):305-8. PubMed ID: 9677563
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  • 11. A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Saga M, Mashima Y, Akeo K, Oguchi Y, Kudoh J, Shimizu N.
    Hum Genet; 1993 Nov 10; 92(5):519-21. PubMed ID: 8244346
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  • 12. Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.
    Goldberg AF, Molday RS.
    Proc Natl Acad Sci U S A; 1996 Nov 26; 93(24):13726-30. PubMed ID: 8943002
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  • 14. [Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].
    Benítez Del Castillo JM, Trujillo MJ, Del Río T, García B, Ayuso C, García Sánchez J.
    Arch Soc Esp Oftalmol; 2000 Apr 26; 75(4):281-6. PubMed ID: 11151159
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  • 18. Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).
    Lam BL, Vandenburgh K, Sheffield VC, Stone EM.
    Am J Ophthalmol; 1995 Jan 26; 119(1):65-71. PubMed ID: 7825692
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