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Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy

13 Sept 2019

Abstract excerpt

Background Bestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as bestrophinopathy. The aim of the current study was to identify the mutation spectrum ofBEST1in a large cohort of Chinese patients with bestrophinopathy. Methods Patients clinically suspected of bestrophinopathy were screened using multigene panel testing. AllBEST1variants were confirmed by Sanger...

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PMID: 31519547
DOI: 10.1136/bjophthalmol-2019-314679

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