Clinical and genetic findings in a Chinese cohort with choroideremia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
https://www.nature.com/articles/s41433-022-01950-6.pdf
Reference31 articles.
1. Moosajee M, Ramsden SC, Black GC, Seabra MC, Webster AR, Clinical utility gene card for: choroideremia. Eur J Hum Genet. 2014; 22.
2. Dimopoulos IS, Radziwon A, St Laurent CD, MacDonald IM. Choroideremia. Curr Opin Ophthalmol. 2017;28:410–5.
3. Dimopoulos IS, Chan S, MacLaren RE, MacDonald IM. Pathogenic mechanisms and the prospect of gene therapy for choroideremia. Expert Opin Orphan Drugs. 2015;3:787–98.
4. Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, et al. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers. Graefes Arch Clin Exp Ophthalmol. 2017;255:2099–111.
5. Corbeel L, Freson K. Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders. Eur J Pediatr. 2008;167:723–9.
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1. Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia;Ophthalmology Science;2023-12
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