Investigative ophthalmology & visual science۲۰۲۵۲ استنادنمایه شده در PubMed
Davide Piccolo, Paul Sladen, Rosellina Guarascio, Kalliopi Ziaka, Michael E Cheetham
چکیده
ABCA4-related retinopathy is the most common monogenic eye disorder in the world and is currently untreatable. Missense variants in ABCA4 constitute ∼60% of causal ABCA4-related retinopathy variants, often resulting in misfolded or dysfunctional protein products. Despite their prevalence, the…
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DOI: 10.1167/iovs.66.9.58