Article
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
Human mutation - 1 Jul 2015
Pattnaik Bikash R, Shahi Pawan K, Marino Meghan J, Liu Xinying, York Nathaniel, Brar Simran, Chiang John, Pillers De-Ann M, Traboulsi Elias I
Abstract excerpt
Mutations in the KCNJ13 gene that encodes the inwardly rectifying potassium channel Kir7.1 cause snowflake vitreoretinal degeneration (SVD) and leber congenital amaurosis (LCA). Kir7.1 controls the microenvironment between the photoreceptors and the retinal pigment epithelium (RPE) and also contributes to the function of other organs such as uterus and brain. Heterologous expressions of the mutant channel have...
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