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2. 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 [Abstract] [Full Text] [Related]
5. 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 Aug; 15(6):480-5. PubMed ID: 8747441 [Abstract] [Full Text] [Related]
8. Sorsby's fundus dystrophy in a family with a Ser-181-CVS mutation in the TIMP-3 gene: poor outcome after laser photocoagulation. Sieving PA, Boskovich S, Bingham E, Pawar H. Trans Am Ophthalmol Soc; 1996 Aug; 94():275-94; discussion 295-7. PubMed ID: 8981701 [Abstract] [Full Text] [Related]
10. 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 U, Apfelstedt-Sylla E, Weber BH. J Med Genet; 1996 Mar; 33(3):233-6. PubMed ID: 8728699 [Abstract] [Full Text] [Related]