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Article

Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jul 2009

Sohn Elliott H, Francis Peter J, Duncan Jacque L, Weleber Richard G, Saperstein David A, Farrell Donald F, Stone Edwin M

Abstract excerpt

OBJECTIVE: To study the phenotypic characteristics of patients with a novel p.E292K mutation in BEST1. METHODS: Affected individuals underwent ophthalmic examination and testing that included photography, autofluorescence, optical coherence tomography, and electrophysiological testing. Their DNA was analyzed for BEST1 mutations. RESULTS: Five patients aged 5 to 59 years who expressed the p.E292K mutation in BEST1...

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Source

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Identifiers

PMID: 19597114
DOI: 10.1001/archophthalmol.2009.148
PMCID: PMC2711525

Genes

BEST1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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