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A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ. Gardner JC, et al. Among authors: moore at. Adv Exp Med Biol. 2012;723:595-601. doi: 10.1007/978-1-4614-0631-0_76. Adv Exp Med Biol. 2012. PMID: 22183383 No abstract available.
Mutations in the CACNA1F and NYX genes in British CSNBX families.
Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. Zito I, et al. Among authors: moore at. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106. Hum Mutat. 2003. PMID: 12552565
Inherited retinal dystrophy and asymmetric axial length.
Francis P, Robson AG, Holder G, Moore A, Francis P, Moore A, Kaushal S. Francis P, et al. Br J Ophthalmol. 2003 Apr;87(4):503-4. doi: 10.1136/bjo.87.4.503. Br J Ophthalmol. 2003. PMID: 12642322 Free PMC article. No abstract available.
Progressive cone dystrophy associated with mutation in CNGB3.
Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. Michaelides M, et al. Among authors: moore at. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82. doi: 10.1167/iovs.03-0898. Invest Ophthalmol Vis Sci. 2004. PMID: 15161866
502 results