Associated Papers
Clinical and genetic findings in a Chinese cohort with choroideremia.
Song Y et al.
Eye (london, England), 2023
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
Cone Identification in Choroideremia: Repeatability, Reliability, and Automation Through Use of a Convolutional Neural Network.
Morgan JIW et al.
Translational Vision Science & Technology, 2020
CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.
Di Iorio V et al.
Investigative Ophthalmology & Visual Science, 2019
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
Esposito G et al.
Human Mutation, 2011
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