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Article

Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.

Molecular medicine reports - 1 Aug 2015

Lin Ying, Gao Hongbin, Liu Yuhua, Liang Xuanwei, Liu Xialin, Wang Zhonghao, Zhang Wanjun, Chen Jiangna, Lin Zhuoling, Huang Xinhua, Liu Yizhi

Abstract excerpt

The purpose of the current study was to investigate the 11 bestrophin-1 (BEST1) exons in patients with best vitelliform macular dystrophy (BVMD), and to characterize the associated clinical features. Complete ophthalmic examinations were conducted on two families, and two family members were diagnosed with BVMD. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the patients and...

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Source

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Identifiers

PMID: 25936525
DOI: 10.3892/mmr.2015.3711
PMCID: PMC4464449

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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