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. 2020 May 5;5(1):e000462. doi: 10.1136/bmjophth-2020-000462

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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Effect of RPE65 D477G variant on electroretinographic (ERG), RPE viability and isomerase activity in vitro. (A) Composite maximum mixed rod and cone ERG responses from mice (PND 86) following injection of 3 µL virus (3.56×10¹¹ vector genomes/mL) at PND 31 (n=20). (B, C) ERG waveforms of representative mice from (A). (D) Effect of wild-type (WT) RPE65 and D477G RPE65 expression on ARPE-19 cell function as assessed by MTS assay (n=8). (E) Retinoid isomerase activities of WT RPE65 and D477G RPE65 in HEK293-L cells incubated with 2 µM all-trans-retinol (n=2). (F) Immunoblot showing expression levels of WT RPE65 and D447G RPE65 with β-actin as standard.