| 1 | SFD, TIMP3
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| The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
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| Naessens S, De Zaeytijd J, Syx D, Vandenbroucke RE, Smeets F, Van Cauwenbergh C, Leroy BP, Peelman F, Coppieters F.
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| Hum Mutat 40(5):539-551. doi: 10.1002/humu.23713. Epub 2019 Feb 6.
2019
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| 2 | SFD, TIMP3
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| A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
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| Meunier I, Bocquet B, Labesse G, Zeitz C, Defoort-Dhellemmes S, Lacroux A, Mauget-Faysse M, Drumare I, Gamez AS, Mathieu C, Marquette V, Sagot L, Dhaenens CM, Arndt C, Carroll P, Remy-Jardin M, Cohen SY, Sahel JA, Puech B, Audo I, Mrejen S, Hamel CP.
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| Sci Rep 6:32544. doi: 10.1038/srep32544.
2016
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| 3 | SFD, TIMP3
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| A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy.
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| Schoenberger SD, Agarwal A.
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| Retina 33(2):429-35. doi: 10.1097/IAE.0b013e318263d3b4.
2013
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| 4 | TIMP3, SFD
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| A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.
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| Lin RJ, Blumenkranz MS, Binkley J, Wu K, Vollrath D.
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| Am J Ophthalmol 142(5):839-48. Epub 2006 Sep 20. 2006
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| 5 | SFD, TIMP3, MMP2
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| Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells.
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| Langton KP, McKie N, Smith BM, Brown NJ, Barker MD.
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| Hum Mol Genet 14(23):3579-86. Epub 2005 Oct 13. 2005
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| 6 | SFD, TIMP3
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| A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy.
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| Langton KP, McKie N, Curtis A, Goodship JA, Bond PM, Barker MD, Clarke M.
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| J Biol Chem 275(35):27027-31. 2000
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| 7 | TIMP3, SFD
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| Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation.
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| Langton KP, et al.
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| J Biol Chem 273 : 16778-16781. 1998
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| 8 | SFD, TIMP3
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| A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features.
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| Tabata Y, et al.
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| Hum Genet 103 : 179-182. 1998
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| 9 | SFD, TIMP3
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| Autosomal recessive Sorsby fundus dystrophy revisited : molecular evidence for dominant inheritance.
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| Felbor U, et al.
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| Am J Hum Genet 60 : 57-62. 1997
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| 10 | SFD, TIMP3
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| A second independent Tyrp168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
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| Felbor U, et al.
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| J Med Genet 33 : 133-236. 1996
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| 11 | SFD, TIMP3
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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, et al.
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| Genome Res 6 : 92-101. 1996
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| 12 | TIMP3, SFD
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| Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.
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| Jacobson SG, et al.
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| Nat Genet 11 : 27-32. 1995
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| 13 | SFD, TIMP3
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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, et al.
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| Hum Mol Genet 4 : 2415-2416. 1995
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| 14 | SFD
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| Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.
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| Gregory CY, et al.
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| J Med Genet 32 : 240-241. 1995
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| 15 | SFD
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| Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.
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| Weber BHF, et al.
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| Nat Genet 7 : 158-161. 1994
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| 16 | TIMP3, SFD
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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, et al.
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| Nat Genet 8 : 352-356. 1994
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