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Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein

 

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Opened Access Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein
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Author: Doumanov, Jordan A.
Zeitz, Christina
Domínguez Giménez, Paloma
Krishna, Abhay
Bellido Díaz, María Luz
Date: 2013
Published in: International Journal of Molecular Sciences, 14, 15121-15140.
Document type: Article
Abstract: Mutations in BEST1 gene, encoding the bestrophin-1 (Best1) protein are associated with macular dystrophies. Best1 is predominantly expressed in the retinal pigment epithelium (RPE), and is inserted in its basolateral membrane. We investigated the ce...
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Cite: Doumanov, J.A., Zeitz, ., Domínguez Giménez, P., Krishna, A. y Bellido Díaz, M.L. (2013). Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein. International Journal of Molecular Sciences, 14, 15121-15140.
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URI: http://hdl.handle.net/11441/63978

DOI: 10.3390/ijms140715121

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