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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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| Publicado no: | Ophthalmic Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Taylor & Francis
2020
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| Assuntos: | |
| Acesso em linha: | 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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