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88 related items for PubMed ID: 9699564

  • 1. Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.
    Rodriguez IR, Mazuruk K, Jaworski C, Iwata F, Moreira EF, Kaiser-Kupfer MI.
    Invest Ophthalmol Vis Sci; 1998 Aug; 39(9):1736-9. PubMed ID: 9699564
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  • 2. [Identification of mutation of the X-linked juvenile retinoschisis gene].
    Yu P, Li J, Li R, Zhang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Apr; 18(2):88-91. PubMed ID: 11295123
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  • 3. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
    Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA.
    Hum Mutat; 1999 Apr; 14(5):423-7. PubMed ID: 10533068
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  • 5. Mutations in the Norrie disease gene.
    Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB.
    Hum Mutat; 1995 Apr; 5(4):285-92. PubMed ID: 7627181
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  • 6. A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
    Poehner WJ, Fossarello M, Rapoport AL, Aleman TS, Cideciyan AV, Jacobson SG, Wright AF, Danciger M, Farber DB.
    Mol Vis; 2000 Oct 30; 6():192-8. PubMed ID: 11062306
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  • 12. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
    Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N.
    Hum Mutat; 2001 Aug 30; 18(2):141-8. PubMed ID: 11462238
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  • 13. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 30; 56(3):105-52. PubMed ID: 19728970
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  • 15. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.
    Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA.
    Ophthalmology; 1999 May 30; 106(5):964-70. PubMed ID: 10328397
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  • 16. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.
    Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naōi N.
    Am J Med Genet; 2001 Dec 01; 104(3):232-8. PubMed ID: 11754050
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  • 17. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
    Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M.
    Invest Ophthalmol Vis Sci; 2002 Jun 01; 43(6):1715-24. PubMed ID: 12036970
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  • 20. Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).
    Lench NJ, Winter GB.
    Hum Mutat; 1995 Jun 01; 5(3):251-9. PubMed ID: 7599636
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