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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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Main Authors: | , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Public Library of Science
2013
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3747230/ https://ncbi.nlm.nih.gov/pubmed/23977131 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0071744 |
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