GeneticsThe American Journal of Human GeneticsPeer-reviewed
Gene augmentation and read-through rescue channelopathy in an iPSC-RPE model of congenital blindness
Pawan Kumar Shahi, Dalton Hermans, Divya Sinha…·Bikash Ranjan Pattnaik
The paper tests read-through drugs and gene therapy in patient-derived iPSC-RPE cells with a KCNJ13 mutation to restore Kir7.1 channel function and rescue channelopathy in LCA16.
36 citations