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