Associated Papers
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
Simunovic MP et al.
Investigative Ophthalmology & Visual Science, 2016
The functional effect of pathogenic mutations in Rab escort protein 1.
Sergeev YV et al.
Mutation Research, 2009
REP-1 gene mutations in Japanese patients with choroideremia.
Fujiki K et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 1999
A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.
Iino Y et al.
Japanese Journal of Ophthalmology, 0
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