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Article

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Molecular vision - 1 Jan 2009

Maia-Lopes Susana, Aguirre-Lamban Jana, Castelo-Branco Miguel, Riveiro-Alvarez Rosa, Ayuso Carmen, Silva Eduardo Duarte

Abstract excerpt

PURPOSE: To resolve the spectrum of causative retina-specific ATP-binding cassette transporter gene (ABCA4) gene mutations in Portuguese Stargardt (STGD) patients and compare allele frequencies obtained in this cohort with those of previous population surveys. METHODS: Using a microarray technique (ABCR400 gene chip), we screened all previously reported ABCA4 gene mutations in the genomic DNA of 27 patients from...

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Identifiers

PMID: 19365591
PMCID: PMC2660377

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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