KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy

ABSTRACT. -associated retinopathy or “cone dystrophy with supernormal rod responses” is an autosomal recessive cone-rod dystrophy with pathognomonic ERG findings. This gene encodes Kv8.2, a voltage-gated potassium channel subunit that acts as a modulator by shifting the activation range of the K(+)...

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Bibliographic Details
Published in:Ophthalmic Genet
Main Authors: Guimaraes, Thales A. C. De, Georgiou, Michalis, Robson, Anthony G., Michaelides, Michel
Format: Artigo
Language:Inglês
Published: Taylor & Francis 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7446039/
https://ncbi.nlm.nih.gov/pubmed/32441199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2020.1766087
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