1 | NRL, RP27
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| Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
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| Borrąs E, de Sousa Dias M, Hernan I, Pascual B, Mańé B, Gamundi MJ, Delįs B, Carballo M.
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| Clin Genet 84(5):441-52. doi: 10.1111/cge.12151. Epub 2013 Apr 15.
2013
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2 | NRL, RP27
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| Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
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| Hernan I, Gamundi MJ, Borrąs E, Maseras M, Garcķa-Sandoval B, Blanco-Kelly F, Ayuso C, Carballo M.
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| Clin Genet 82(5):446-52. doi: 10.1111/j.1399-0004.2011.01796.x. Epub 2011 Nov 2.
2012
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3 | NRL, RP27
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| Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
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| Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP.
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| Proc Natl Acad Sci U S A 101(51):17819-24. Epub 2004 Dec 09. 2004
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4 | NRL, RP27
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| NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
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| Bessant DA, Payne AM, Plant C, Bird AC, Swaroop A, Bhattacharya SS.
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| Eur J Hum Genet 8(10):783-7. 2000
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5 | NRL, RP27
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| A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
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| Bessant DA, et al.
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| Nat Genet 21(4):355-6. No abstract available 1999
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