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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(+)...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Taylor & Francis
2020
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| Materias: | |
| 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 |