Genotype–Phenotype of RPE65 Mutations: A Reference Guide for Gene Testing and Its Clinical Application
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Publisher
Springer Singapore
Link
http://link.springer.com/content/pdf/10.1007/978-981-15-9184-6_14
Reference121 articles.
1. Hamel CP, Tsilou E, Harris E, Pfeffer BA, Hooks JJ, Detrick B, Redmond TM. A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina. J Neurosc Res. 1993;34:414–25.
2. Moiseyev G, Takahashi Y, Chen Y, Gentleman S, Redmond TM, Crouch RK, Ma JX. RPE65 is an iron(II)-dependent isomerohydrolase in the retinoid visual cycle. J Biol Chem. 2006;281:2835–40.
3. Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T. Fundus albipunctatus associated with compound heterozygous mutations in RPE65. Ophthalmology. 2011;118:888–94.
4. Yang G, Liu Z, Xie S, Li C, Lv L, Zhang M, Zhao J. Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. Sci Rep. 2017;7:46285.
5. Li S, Xiao X, Yi Z, Sun W, Wang P, Zhang Q. RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. Acta Ophthalmol. 2020;8(2):e181–90.
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