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The causal mutation in ARR3 gene for high myopia and progressive color vision defect
The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age < 7 years old) high myopia (< − 6D). He...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238396/ https://www.ncbi.nlm.nih.gov/pubmed/37268727 http://dx.doi.org/10.1038/s41598-023-36141-0 |