Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

Abstract Background Best vitelliform macular dystrophy (BVMD) is an autosomal dominant macular degeneration. The typical central yellowish yolk-like lesion usually appears in childhood and gradually worsens. Most cases are caused by variants in the BEST1 gene which encodes bestrophin-1, an integral...

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Bibliographic Details
Main Authors: Vladimir Frecer, Giancarlo Iarossi, Anna Paola Salvetti, Paolo Enrico Maltese, Giulia Delledonne, Marta Oldani, Giovanni Staurenghi, Benedetto Falsini, Angelo Maria Minnella, Lucia Ziccardi, Adriano Magli, Leonardo Colombo, Fabiana D’Esposito, Jan Miertus, Francesco Viola, Marcella Attanasio, Emilia Maggio, Matteo Bertelli
Format: Article
Language:English
Published: BMC 2019-10-01
Series:Journal of Translational Medicine
Subjects:
Best vitelliform macular dystrophy
Best disease
Best-corrected visual acuity
Computational structural biology
Online Access:http://link.springer.com/article/10.1186/s12967-019-2080-3

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