Associated Papers
Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
Prétot D et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2025
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.
Waldock WJ et al.
Ophthalmic Genetics, 2024
Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy.
Yusuf IH et al.
Cold Spring Harbor Perspectives in Medicine, 2023
Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose.
Fry LE et al.
Jama Ophthalmology, 2020
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