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3. A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features. Tabata Y; Isashiki Y; Kamimura K; Nakao K; Ohba N Hum Genet; 1998 Aug; 103(2):179-82. PubMed ID: 9760202 [TBL] [Abstract][Full Text] [Related]
5. Sorsby's fundus dystrophy in two Japanese families with unusual clinical features. Isashiki Y; Tabata Y; Kamimura K; Ohba N Jpn J Ophthalmol; 1999; 43(6):472-80. PubMed ID: 10672875 [TBL] [Abstract][Full Text] [Related]
6. 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 Retina; 1995; 15(6):480-5. PubMed ID: 8747441 [TBL] [Abstract][Full Text] [Related]
8. [Introduction to genetics in ophthalmology. Value of family studies]. Ohba N Nippon Ganka Gakkai Zasshi; 1999 Dec; 103(12):851-70. PubMed ID: 10643291 [TBL] [Abstract][Full Text] [Related]
9. TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. Chong NH; Alexander RA; Gin T; Bird AC; Luthert PJ Invest Ophthalmol Vis Sci; 2000 Mar; 41(3):898-902. PubMed ID: 10711711 [TBL] [Abstract][Full Text] [Related]
17. Analysis of the collagen VI assemblies associated with Sorsby's fundus dystrophy. Knupp C; Chong NH; Munro PM; Luthert PJ; Squire JM J Struct Biol; 2002; 137(1-2):31-40. PubMed ID: 12064931 [TBL] [Abstract][Full Text] [Related]
18. Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. Langton KP; McKie N; Smith BM; Brown NJ; Barker MD Hum Mol Genet; 2005 Dec; 14(23):3579-86. PubMed ID: 16223891 [TBL] [Abstract][Full Text] [Related]
19. Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family. Kalmus H; Seedburgh D J Med Genet; 1976 Aug; 13(4):271-6. PubMed ID: 1085369 [TBL] [Abstract][Full Text] [Related]
20. Tissue inhibitor of metalloproteinase-3 differentially binds to components of Bruch's membrane. Majid MA; Smith VA; Matthews FJ; Newby AC; Dick AD Br J Ophthalmol; 2006 Oct; 90(10):1310-5. PubMed ID: 16837541 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]