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Article

Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele.

Molecular vision - 11 Aug 2006

Valverde Diana, Riveiro-Alvarez Rosa, Bernal Sara, Jaakson Kaie, Baiget Montserrat, Navarro Rafael, Ayuso Carmen

Abstract excerpt

PURPOSE: To evaluate, in a pool of affected families, the mutation spectrum in Stargardt patients from Spain, using the ABCR400 microarray that contains described sequence variants in the gene encoding for the photoreceptor specific ATP-binding cassette transporter (ABCA4). METHODS: We analyzed 76 Spanish patients with STGD1 for a population-specific survey on the sequence variations in the ABCA4 gene, using the...

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Identifiers

PMID: 16917483

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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.

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