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A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.

Anna A StepanovaNatalya OgorodovaVitaly V KadyshevOlga A ShchaginaSergei KutsevAleksandr Polyakov
Published in: Genes (2023)
gene contribute significantly to the pathogenesis of IRDs and comprise 5.3% of all patients with a confirmed molecular genetic diagnosis. This study allowed for the formation of a cohort for target therapy of the disorder; such therapy has already been carried out for some patients.
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