Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations

BEST1 is a Ca(2+)-activated Cl(−) channel predominantly expressed in retinal pigment epithelium (RPE), and over 250 genetic mutations in the BEST1 gene have been identified to cause retinal degenerative disorders generally known as bestrophinopathies. As most BEST1 mutations are autosomal dominant,...

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Detalles Bibliográficos
Autores principales: Ji, Changyi, Li, Yao, Kittredge, Alec, Hopiavuori, Austin, Ward, Nancy, Yao, Peng, Fukuda, Yohta, Zhang, Yu, Tsang, Stephen H., Yang, Tingting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6910965/
https://www.ncbi.nlm.nih.gov/pubmed/31836750
http://dx.doi.org/10.1038/s41598-019-54892-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6910965/
https://www.ncbi.nlm.nih.gov/pubmed/31836750
http://dx.doi.org/10.1038/s41598-019-54892-7

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