Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells
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DOI: 10.1007/s00417-020-04636-5
Abstract: Purpose Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB) are two kinds of bestrophinopathies which are caused by BEST1 mutations and characterized by accumulation of lipofuscin-like materials on the retinal pigment epithelium cell-photoreceptor… read more here.
Keywords: s142g a146t; apoptosis; rpe cells; pigment epithelium ... See more keywords