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Comprehensive structure-function analysis of causative variants in retinal pigment epithelium specific 65 kDa protein associated Leber Congenital Amaurosis
A recent study published to screen RPE65 in 187 families with Leber Congenital Amaurosis (LCA) by Zilin Zhong in 2019. There are seven novel variants were identified in RPE65, which was associated with LCA, but among only five were missense mutations [(c.124C > T, p.(Leu42Phe), c.149T > C, p....
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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KeAi Publishing
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012777/ https://www.ncbi.nlm.nih.gov/pubmed/32072079 http://dx.doi.org/10.1016/j.ncrna.2019.11.001 |