Gene Therapy Trial on X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR
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Publisher
Springer Nature Singapore
Link
https://link.springer.com/content/pdf/10.1007/978-981-99-4436-1_17
Reference66 articles.
1. Sharon D, Sandberg MA, Rabe VW, et al. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003;73(5):1131–46.
2. Branham K, Othman M, Brumm M, et al. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci. 2012;53(13):8232–7.
3. Cehajic-Kapetanovic J, Martinez-Fernandez de la Camara C, Birtel J, et al. Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. Proc Natl Acad Sci U S A. 2022;119(49):e2208707119.
4. Talib M, van Schooneveld MJ, Thiadens AA, et al. CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: a long-term follow-up study. Retina. 2019;39(6):1186–99.
5. Nanda A, Salvetti AP, Clouston P, Downes SM, MacLaren RE. Exploring the variable phenotypes of RPGR carrier females in assessing their potential for retinal gene therapy. Genes (Basel). 2018;9(12).
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