Investigative ophthalmology & visual science۲۰۲۵۱ استنادنمایه شده در PubMed
Leila Azizzadeh Pormehr, Kannan Vrindavan Manian, Ha Eun Cho, T Michael Redmond, Jason Comander
چکیده
RPE65 is a key enzyme in the visual cycle that regenerates 11-cis-retinal. Mutations in RPE65 cause a retinal dystrophy that is treatable with an approved gene therapy. Variants of unknown significance (VUS) on genetic testing can prevent patients from obtaining a firm genetic diagnosis and…
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DOI: 10.1167/iovs.66.13.10