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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and variants were identified as the cause of autosomal recessive Stargardt disease (STGD1). Over the next two decades, vari...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7544654/ https://www.ncbi.nlm.nih.gov/pubmed/32278709 http://dx.doi.org/10.1016/j.preteyeres.2020.100861 |