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Article

Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.

Ophthalmic research - 1 Jan 2016

Liu Jingshu, Zhang Yongjin, Xuan Yi, Liu Wei, Wang Min

Abstract excerpt

PURPOSE: To describe the clinical features and to analyze BEST1 mutations in patients with Best vitelliform macular dystrophy (BVMD). METHODS: Thirteen individuals affected by BVMD from 6 unrelated Chinese families were studied. Complete ophthalmological examinations were performed, and the BEST1 gene was screened in all participants and 100 controls. Follow-ups were arranged within 12 months. RESULTS: All 6...

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Identifiers

PMID: 27078032
DOI: 10.1159/000444681

Genes

BEST1

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