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iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration

8 Nov 2012

Abstract excerpt

Best disease (BD) is an inherited degenerative disease of the human macula that results in progressive and irreversible central vision loss. It is caused by mutations in the retinal pigment epithelium (RPE) gene BESTROPHIN1 (BEST1), which, through mechanism(s) that remain unclear, lead to the accumulation of subretinal fluid and autofluorescent waste products from shed photoreceptor outer segments (POSs). We...

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PMID: 23139242
DOI: 10.1093/hmg/dds469

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