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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Detalles Bibliográficos
Autores principales: Pattnaik, Bikash R., Tokarz, Sara, Asuma, Matti P., Schroeder, Tyler, Sharma, Anil, Mitchell, Julie C., Edwards, Albert O., Pillers, De-Ann M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3747230/
https://www.ncbi.nlm.nih.gov/pubmed/23977131
http://dx.doi.org/10.1371/journal.pone.0071744

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