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Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K. Yang Z, et al. J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891. J Clin Invest. 2008. PMID: 18654668 Free PMC article.
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.
Karan G, Lillo C, Yang Z, Cameron DJ, Locke KG, Zhao Y, Thirumalaichary S, Li C, Birch DG, Vollmer-Snarr HR, Williams DS, Zhang K. Karan G, et al. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4164-9. doi: 10.1073/pnas.0407698102. Epub 2005 Mar 4. Proc Natl Acad Sci U S A. 2005. PMID: 15749821 Free PMC article.