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Article

Nonsense-Mediated Decay as the Molecular Cause for Autosomal Recessive Bestrophinopathy in Two Unrelated Families

23 Dec 2011

Abstract excerpt

PURPOSE: To characterize the molecular basis of two novel BEST1 mutations causing autosomal recessive bestrophinopathy (ARB). Strong evidence argues in favor of the dominant negative effects of most autosomal dominantly inherited mutations, whereas there is only weak support for the molecular basis of the ARB phenotype. METHODS: Patients underwent ophthalmic examination, color and autofluorescence fundus imaging,...

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PMID: 22199244
DOI: 10.1167/iovs.11-7964

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