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Volumn 60, Issue 1, 1997, Pages 57-62

Autosomal recessive Sorsby fundus dystrophy revisited: Molecular evidence for dominant inheritance

Author keywords

[No Author keywords available]

Indexed keywords

TISSUE INHIBITOR OF METALLOPROTEINASE;

EID: 0031038238     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (50)

References (19)
  • 1
    • 0023857467 scopus 로고
    • Sorsby's pseudoinflammatory macula dystrophy - Sorsby's fundus dystrophies
    • Capon MRC, Polkinghorne PJ, Fitzke FW, Bird AC (1988) Sorsby's pseudoinflammatory macula dystrophy - Sorsby's fundus dystrophies. Eye 2:114-122
    • (1988) Eye , vol.2 , pp. 114-122
    • Capon, M.R.C.1    Polkinghorne, P.J.2    Fitzke, F.W.3    Bird, A.C.4
  • 4
    • 0030028627 scopus 로고    scopus 로고
    • A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy
    • Felbor U, Stöhr H, Amann T, Schönherr H, Apfelstedt-Sylla E, Weber BHF (1996) A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. J Med Genet 33: 233-236
    • (1996) J Med Genet , vol.33 , pp. 233-236
    • Felbor, U.1    Stöhr, H.2    Amann, T.3    Schönherr, H.4    Apfelstedt-Sylla, E.5    Weber, B.H.F.6
  • 5
    • 0028879866 scopus 로고
    • A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
    • Felbor U, Stöhr H, Amann T, Schönherr U, Weber BHF (1995) A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet 4:2415-2416
    • (1995) Hum Mol Genet , vol.4 , pp. 2415-2416
    • Felbor, U.1    Stöhr, H.2    Amann, T.3    Schönherr, U.4    Weber, B.H.F.5
  • 6
    • 0020469843 scopus 로고
    • Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance
    • Forsius HR, Eriksson AW, Suvanto EA, Alanko HI (1982) Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. Am J Ophthalmol 94:634-649
    • (1982) Am J Ophthalmol , vol.94 , pp. 634-649
    • Forsius, H.R.1    Eriksson, A.W.2    Suvanto, E.A.3    Alanko, H.I.4
  • 10
    • 0019779621 scopus 로고
    • Sorsby's pseudoinflammatory macular dystrophy
    • Hoskin A, Sehmi K, Bird AC (1981) Sorsby's pseudoinflammatory macular dystrophy. Br J Ophthalmol 65:859-865
    • (1981) Br J Ophthalmol , vol.65 , pp. 859-865
    • Hoskin, A.1    Sehmi, K.2    Bird, A.C.3
  • 12
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 13
    • 0029563246 scopus 로고
    • Sorsby's fundus dystrophy: A South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22
    • Peters AL, Greenberg J (1995) Sorsby's fundus dystrophy: a South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22. Retina 15:480-485
    • (1995) Retina , vol.15 , pp. 480-485
    • Peters, A.L.1    Greenberg, J.2
  • 15
    • 0038851522 scopus 로고
    • The dystrophies of the macula
    • Sorsby A (1940) The dystrophies of the macula. Br J Ophthalmol 24:469-529
    • (1940) Br J Ophthalmol , vol.24 , pp. 469-529
    • Sorsby, A.1
  • 17
    • 0029556810 scopus 로고
    • Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)
    • Stöhr H, Roomp K, Felbor U, Weber BHF (1995) Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3). Genome Res 5:483-487
    • (1995) Genome Res , vol.5 , pp. 483-487
    • Stöhr, H.1    Roomp, K.2    Felbor, U.3    Weber, B.H.F.4
  • 18
    • 0028097367 scopus 로고
    • Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    • Weber BHF, Vogt G, Pruett RC, Stöhr H, Felbor U (1994) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 8:352-356
    • (1994) Nat Genet , vol.8 , pp. 352-356
    • Weber, B.H.F.1    Vogt, G.2    Pruett, R.C.3    Stöhr, H.4    Felbor, U.5
  • 19
    • 0029881620 scopus 로고    scopus 로고
    • Sorsby's fundus dystrophy in the British Isles: Demonstration of a striking founder effect by microsatellite-generated haplotypes
    • Wijesuriya SD, Evans K, Jay MR, Davison C, Weber BHF, Bird AC, Bhattacharya SS, et al (1996) Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res 6:92-101
    • (1996) Genome Res , vol.6 , pp. 92-101
    • Wijesuriya, S.D.1    Evans, K.2    Jay, M.R.3    Davison, C.4    Weber, B.H.F.5    Bird, A.C.6    Bhattacharya, S.S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.