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Article

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.

Investigative ophthalmology & visual science - 1 Nov 2017

Salles Mariana Vallim, Motta Fabiana Louise, Dias da Silva Elton, Varela Patricia, Costa Kárita Antunes, Filippelli-Silva Rafael, Martin Renan Paulo, Chiang John Pei-Wen, Pesquero João Bosco, Sallum Juliana Maria Ferraz

Abstract excerpt

Purpose: To analyze the presence of complex alleles of the ABCA4 gene in Brazilian patients with Stargardt disease and to assess the correlation with clinical features. Methods: This was an observational cross-sectional study. Patients with a diagnosis of Stargardt disease who presented three pathogenic variants of the ABCA4 gene or who had variants previously described as complex alleles were included. The...

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Identifiers

PMID: 29114839
DOI: 10.1167/iovs.17-22398

Genes

ABCA4

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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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