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Article

Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.

Clinical chemistry - 1 Aug 2004

Stenirri Stefania, Fermo Isabella, Battistella Stefania, Galbiati Silvia, Soriani Nadia, Paroni Rita, Manitto Maria Pia, Martina Elisabetta, Brancato Rosario, Allikmets Rando, Ferrari Maurizio, Cremonesi Laura

Abstract excerpt

BACKGROUND: Mutations in the retina-specific ABC transporter (ABCA4) gene have been associated with several forms of macular degenerations. Because the high complexity of the molecular genotype makes scanning of the ABCA4 gene cumbersome, we describe here the first use of denaturing HPLC (DHPLC) to screen for ABCA4 mutations. METHODS: Temperature conditions were designed for all 50 exons based on effective...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15192030
DOI: 10.1373/clinchem.2004.033241

Genes

ABCA4

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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