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Article

A novel homozygous BEST1 mutation correlates with complex ocular phenotypes.

Ophthalmology - 1 Jul 2013

Sheng Xunlun, Chen Xuejuan, Zhao Kanxing, Liu Yani, Vollrath Douglas, Zhao Chen

Abstract excerpt

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Topics

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Share to Bestrophins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23823511
DOI: 10.1016/j.ophtha.2013.03.043

Genes

BEST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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A novel homozygous BEST1 mutation correlates with complex ocular phenotypes.PMID 23823511Read ↗

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A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathySemantic proximity Read ↗

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in HumansSemantic proximity Read ↗

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A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.Semantic proximity Read ↗

BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.Semantic proximity Read ↗

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[Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1].Semantic proximity Read ↗

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A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.Semantic proximity Read ↗

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