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3. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Ebenezer ND; Michaelides M; Jenkins SA; Audo I; Webster AR; Cheetham ME; Stockman A; Maher ER; Ainsworth JR; Yates JR; Bradshaw K; Holder GE; Moore AT; Hardcastle AJ Invest Ophthalmol Vis Sci; 2005 Jun; 46(6):1891-8. PubMed ID: 15914600 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Wissinger B; Dangel S; Jägle H; Hansen L; Baumann B; Rudolph G; Wolf C; Bonin M; Koeppen K; Ladewig T; Kohl S; Zrenner E; Rosenberg T Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024 [TBL] [Abstract][Full Text] [Related]
6. Colour vision in a family with Sorsby's dystrophy. Atchison DA Acta Ophthalmol (Copenh); 1989 Dec; 67(6):617-24. PubMed ID: 2618629 [TBL] [Abstract][Full Text] [Related]
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9. Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals. Michaelides M; Johnson S; Simunovic MP; Bradshaw K; Holder G; Mollon JD; Moore AT; Hunt DM Eye (Lond); 2005 Jan; 19(1):2-10. PubMed ID: 15094734 [TBL] [Abstract][Full Text] [Related]
10. 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]
12. Colour vision, ophthalmological and linkage studies in a pedigree with a tritan defect. Went LN; Völker-Dieben H; de Vries-de Mol EC Mod Probl Ophthalmol; 1974; 13(0):272-6. PubMed ID: 4548144 [No Abstract] [Full Text] [Related]
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