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1
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0023857467
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Sorsby's pseudoinflammatory macula dystrophy - Sorsby's fundus dystrophies
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Capon MRC, Polkinghorne PJ, Fitzke FW, Bird AC (1988) Sorsby's pseudoinflammatory macula dystrophy - Sorsby's fundus dystrophies. Eye 2:114-122
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Capon, M.R.C.1
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Bird, A.C.4
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2
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0029947143
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Sorsby's fundus dystrophy: A family with the Ser181Cys mutation of TIMP3
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Carrero-Valenzuela RD, Klein ML, Weleber RG, Murphey WH, Litt M (1996) Sorsby's fundus dystrophy: a family with the Ser181Cys mutation of TIMP3. Arch Ophthalmol 114:737-738
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Carrero-Valenzuela, R.D.1
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Murphey, W.H.4
Litt, M.5
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4
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0030028627
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A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy
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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
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Felbor, U.1
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Apfelstedt-Sylla, E.5
Weber, B.H.F.6
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5
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A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
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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
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Felbor, U.1
Stöhr, H.2
Amann, T.3
Schönherr, U.4
Weber, B.H.F.5
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8
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0028970172
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Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278
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Gregory CY, Wijesuriya S, Evans K, Jay M, Bird AC, Bhattacharya SS (1995) Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. J Med Genet 32:240-241
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J Med Genet
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Gregory, C.Y.1
Wijesuriya, S.2
Evans, K.3
Jay, M.4
Bird, A.C.5
Bhattacharya, S.S.6
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9
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0028231090
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The 1993-1994 Généthon human genetic linkage map
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Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al (1994) The 1993-1994 Généthon human genetic linkage map. Nat Genet 7:246-339
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Gyapay, G.1
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Dib, C.4
Fizames, C.5
Millasseau, P.6
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10
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0019779621
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Sorsby's pseudoinflammatory macular dystrophy
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Hoskin A, Sehmi K, Bird AC (1981) Sorsby's pseudoinflammatory macular dystrophy. Br J Ophthalmol 65:859-865
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Hoskin, A.1
Sehmi, K.2
Bird, A.C.3
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11
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0029114249
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Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
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Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM (1995) Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet 11:27-32
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Jacobson, S.G.1
Cideciyan, A.V.2
Regunath, G.3
Rodriguez, F.J.4
Vandenburgh, K.5
Sheffield, V.C.6
Stone, E.M.7
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12
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0024756969
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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
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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
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Genomics
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Orita, M.1
Suzuki, Y.2
Sekiya, T.3
Hayashi, K.4
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13
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0029563246
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Sorsby's fundus dystrophy: A South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22
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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
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Peters, A.L.1
Greenberg, J.2
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14
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0024830978
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Sorsby's fundus dystrophy: A clinical study
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Polkinghorne PJ, Capon MRC, Berninger T, Lyness AL, Sehmi K, Bird AC (1989) Sorsby's fundus dystrophy: a clinical study. Ophthalmology 96:1763-1768
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(1989)
Ophthalmology
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Polkinghorne, P.J.1
Capon, M.R.C.2
Berninger, T.3
Lyness, A.L.4
Sehmi, K.5
Bird, A.C.6
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15
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0038851522
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The dystrophies of the macula
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Sorsby A (1940) The dystrophies of the macula. Br J Ophthalmol 24:469-529
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Sorsby, A.1
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0029556810
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Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)
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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
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Stöhr, H.1
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Felbor, U.3
Weber, B.H.F.4
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18
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0028097367
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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
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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
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(1994)
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Weber, B.H.F.1
Vogt, G.2
Pruett, R.C.3
Stöhr, H.4
Felbor, U.5
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19
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0029881620
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Sorsby's fundus dystrophy in the British Isles: Demonstration of a striking founder effect by microsatellite-generated haplotypes
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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
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(1996)
Genome Res
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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
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