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Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.
Bowne SJ, Sullivan LS, Koboldt DC, Ding L, Fulton R, Abbott RM, Sodergren EJ, Birch DG, Wheaton DH, Heckenlively JR, Liu Q, Pierce EA, Weinstock GM, Daiger SP. Bowne SJ, et al. Among authors: pierce ea. Invest Ophthalmol Vis Sci. 2011 Jan 25;52(1):494-503. doi: 10.1167/iovs.10-6180. Invest Ophthalmol Vis Sci. 2011. PMID: 20861475 Free PMC article.
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.
Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, Atkins K, Azimi A, Daiger SP, Farber DB, Heckenlively JR, Pierce EA, Sullivan LS, Zuo J. Gao J, et al. Among authors: pierce ea. Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5698-703. doi: 10.1073/pnas.042122399. Proc Natl Acad Sci U S A. 2002. PMID: 11960024 Free PMC article.
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.
162 results