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RP1 is required for the correct stacking of outer segment discs.
Liu Q, Lyubarsky A, Skalet JH, Pugh EN Jr, Pierce EA. Liu Q, et al. Among authors: pierce ea. Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4171-83. doi: 10.1167/iovs.03-0410. Invest Ophthalmol Vis Sci. 2003. PMID: 14507858 Free PMC article.
NMNAT1 mutations cause Leber congenital amaurosis.
Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA. Falk MJ, et al. Among authors: pierce ea. Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842227 Free PMC article.
159 results