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Article

Identification of three ABCA4 sequence variations exclusive to African American patients in a cohort of patients with Stargardt disease.

American journal of ophthalmology - 1 Dec 2013

Utz Virginia Miraldi, Chappelow Aimee V, Marino Meghan J, Beight Craig D, Sturgill-Short Gwen M, Pauer Gayle J T, Crowe Susan, Hagstrom Stephanie A, Traboulsi Elias I

Abstract excerpt

PURPOSE: To describe the clinical and molecular findings in ten unrelated African American patients with Stargardt disease. DESIGN: Retrospective, observational case series. METHODS: We reviewed the clinical histories, examinations, and genotypes of 85 patients with molecular diagnoses of Stargardt disease. Three ABCA4 sequence variations identified exclusively in African Americans were evaluated in 300 African...

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Source

Identifiers

PMID: 24011517
DOI: 10.1016/j.ajo.2013.07.008

Genes

ABCA4

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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