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Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein
Doumanov, Jordan A.; Zeitz, Christina; Domínguez Giménez, Paloma; Krishna, Abhay; Bellido Díaz, María Luz (MDPI, 2013)Mutations in BEST1 gene, encoding the bestrophin-1 (Best1) protein are associated with macular dystrophies. Best1 is ...