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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Detalles Bibliográficos
Autores principales: Guimaraes, Thales A. C. De, Georgiou, Michalis, Robson, Anthony G., Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2020
Materias:
Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446039/
https://www.ncbi.nlm.nih.gov/pubmed/32441199
http://dx.doi.org/10.1080/13816810.2020.1766087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446039/
https://www.ncbi.nlm.nih.gov/pubmed/32441199
http://dx.doi.org/10.1080/13816810.2020.1766087

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