Associated Papers
A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.
Higa N et al.
Frontiers in Medicine, 2024
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
Katagiri S et al.
Ophthalmic Genetics, 2016
Efficacy and Safety of Voretigene Neparvovec in RPE65-Retinopathy: Results of a Phase III Trial in Japan.
Fujinami K et al.
Ophthalmology Science, 0
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