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Article

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

Investigative ophthalmology & visual science - 1 Jun 2011

Davidson Alice E, Millar Ian D, Burgess-Mullan Rosemary, Maher Geoffrey J, Urquhart Jill E, Brown Peter D, Black Graeme C M, Manson Forbes D C

Abstract excerpt

PURPOSE: Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy affecting macular and retinal pigmented epithelium function resulting from homozygous or compound heterozygous mutations in BEST1. In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by investigating their effect on bestrophin-1's chloride conductance, cellular localization, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21330666
DOI: 10.1167/iovs.10-6707

Genes

BEST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.PMID 21330666Read ↗

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