| 1 | LCA6, RPGRIP1
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| Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.
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| Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM.
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| Ophthalmology 114(5):895-8. Epub 2007 Feb 16.
2007
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| 2 | LCA6, RPGRIP1
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| Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.
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| Lu X, Guruju M, Oswald J, Ferreira PA.
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| Hum Mol Genet 14(10):1327-40. Epub 2005 Mar 30. 2005
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| 3 | RPGRIP1, LCA6, NPHP4, SLSN4
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| Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
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| Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP.
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| Proc Natl Acad Sci U S A 102(51):18520-5. Epub 2005 Dec 9. 2005
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| 4 | LCA6, RPGRIP1
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| RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
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| Koenekoop RK.
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| Ophthalmic Genet 26(4):175-9. 2005
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| 5 | RPGRIP1, LCA6
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| Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization.
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| Lu X, Ferreira PA.
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| Invest Ophthalmol Vis Sci 46(6):1882-90. 2005
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| 6 | CRB1, LCA6, RPGRIP1
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| Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
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| Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, Martin-Coignard D, Leowski C, Homfray T, Dufier JL, Munnich A, Kaplan J, Rozet JM.
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| Eur J Hum Genet 9(8):561-71. 2001
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| 7 | GUCY2D, LCA1, LCA2, LCA6, RPE65
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| Leber Congenital Amaurosis.
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| Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J.
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| Mol Genet Metab 68(2):200-208 1999
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| 8 | LCA6
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| A novel for Leber congenital amaurosis on chromosome 14q24.
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| Stockton DW, et al.
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| Hum Genet 103 : 328-333. 1998
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