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Patient-specific mutations impair BESTROPHIN1’s essential role in mediating Ca(2+)-dependent Cl(-) currents in human RPE

Mutations in the human BEST1 gene lead to retinal degenerative diseases displaying progressive vision loss and even blindness. BESTROPHIN1, encoded by BEST1, is predominantly expressed in retinal pigment epithelium (RPE), but its physiological role has been a mystery for the last two decades. Using...

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Detalles Bibliográficos
Autores principales:	Li, Yao, Zhang, Yu, Xu, Yu, Kittredge, Alec, Ward, Nancy, Chen, Shoudeng, Tsang, Stephen H, Yang, Tingting
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	eLife Sciences Publications, Ltd 2017
Materias:	Structural Biology and Molecular Biophysics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655127/ https://www.ncbi.nlm.nih.gov/pubmed/29063836 http://dx.doi.org/10.7554/eLife.29914

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