Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.

Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.

Snowflake Vitreoretinal Degeneration (SVD) is associated with the R162W mutation of the Kir7.1 inwardly-rectifying potassium channel. Kir7.1 is found at the apical membrane of Retinal Pigment Epithelial (RPE) cells, adjacent to the photoreceptor neurons. The SVD phenotype ranges from RPE degeneratio...

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Bibliographic Details
Main Authors: Bikash R Pattnaik, Sara Tokarz, Matti P Asuma, Tyler Schroeder, Anil Sharma, Julie C Mitchell, Albert O Edwards, De-Ann M Pillers
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3747230?pdf=render

Internet

http://europepmc.org/articles/PMC3747230?pdf=render

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