Associated Papers
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients.
Radziwon A et al.
Investigative Ophthalmology & Visual Science, 2018
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.
Freund PR et al.
Molecular Genetics & Genomic Medicine, 2016
Genetic analysis of choroideremia families in the Australian population.
McLaren TL et al.
Clinical & Experimental Ophthalmology, 2015
Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.
Strunnikova NV et al.
Plos One, 2009
Mutational analysis of patients with the diagnosis of choroideremia.
McTaggart KE et al.
Human Mutation, 2002
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