Environmental Light Has an Essential Effect on the Disease Expression in a Dominant RPE65 Mutation
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-27681-1_61
Reference16 articles.
1. Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, et al. Inherited retinal diseases due to RPE65 variants: from genetic diagnostic management to therapy. Int J Mol Sci. 2021;22(13):7207.
2. Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LCS, Kiang AS, et al. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet. 2011;19(10):1074–81.
3. Cai X, Conley SM, Naash MI. RPE65: role in the visual cycle, human retinal disease, and gene therapy. Ophthalmic Genet. 2009;30(2):57–62.
4. Cremers FPM, Boon CJF, Bujakowska K, Zeitz C. Special issue introduction: inherited retinal disease: novel candidate genes, genotype-phenotype correlations, and inheritance models. Genes (Basel). 2018;9(4):215.
5. Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Evaluation of genotype-phenotype associations in leber congenital amaurosis. Retina (Philadelphia, Pa). 2005;25(7):919–29.
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