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Article

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

The British journal of ophthalmology - 1 Oct 2009

Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez M Angel, Trujillo-Tiebas M Jose, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso C

Abstract excerpt

AIM: To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population. METHODS: arSTGD patients (n = 133) were analysed using ABCR400 microarray and sequencing. Control subjects were analysed by two different strategies: 200 individuals were screened for the p.Arg1129Leu mutation by denaturing-HPLC...

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Identifiers

PMID: 18977788
DOI: 10.1136/bjo.2008.148155
PMCID: PMC2743849

Genes

ABCA4

Variants

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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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