1. A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). Issue 7 (20th May 2015) Authors: Pattnaik, Bikash R.; Shahi, Pawan K.; Marino, Meghan J.; Liu, Xinying; York, Nathaniel; Brar, Simran; Chiang, John; Pillers, De‐Ann M.; Traboulsi, Elias I. Journal: Human mutation Issue: Volume 36:Issue 7(2015:Jul.) Page Start: 720 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗