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Article

BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.

Molecular vision - 1 Jan 2012

Sodi Andrea, Passerini Ilaria, Murro Vittoria, Caputo Roberto, Bacci Giacomo Maria, Bodoj Mirela, Torricelli Francesca, Menchini Ugo

Abstract excerpt

PURPOSE: To analyze the spectrum of sequence variants in the BEST1 gene in a group of Italian patients affected by Best vitelliform macular dystrophy (VMD). METHODS: Thirty Italian patients with a diagnosis of VMD and 20 clinically healthy relatives were recruited. They belonged to 19 Italian fam...

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Source

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Identifiers

PMID: 23213274
PMCID: PMC3513188

Genes

BEST1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23213274-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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