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Article

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.

Investigative ophthalmology & visual science - 1 May 2010

Aguirre-Lamban Jana, Riveiro-Alvarez Rosa, Garcia-Hoyos Maria, Cantalapiedra Diego, Avila-Fernandez Almudena, Villaverde-Montero Cristina, Trujillo-Tiebas Maria Jose, Ramos Carmen, Ayuso Carmen

Abstract excerpt

PURPOSE: Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD), a few cases of autosomal recessive cone-rod dystrophy (arCRD), and autosomal recessive retinitis pigmentosa (arRP). The purpose of this study was to compare high-resolution melting (HRM) a...

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Identifiers

PMID: 19959634
DOI: 10.1167/iovs.09-4518

Genes

ABCA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19959634-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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