Referenced in: none

Automatically associated channels: Kir1.1 , Kir7.1

Title: A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

Authors: Bikash R Pattnaik, Pawan K Shahi, Meghan J Marino, Xinying Liu, Nathaniel York, Simran Brar, John Chiang, De-Ann M Pillers, Elias I Traboulsi

Journal, date & volume: Hum. Mutat., 2015 Jul , 36, 720-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25921210

Abstract