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Article

De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy.

Clinical chemistry and laboratory medicine - 1 Jan 2006

Stenirri Stefania, Battistella Stefania, Fermo Isabella, Manitto Maria Pia, Martina Elisabetta, Brancato Rosario, Ferrari Maurizio, Cremonesi Laura

Abstract excerpt

BACKGROUND: Mutations in the retina-specific ABC transporter (ABCA4) gene are associated with different types of macular degeneration, including Stargardt disease, cone-rod dystrophy, Fundus flavimaculatus, Retinitis pigmentosa and probably age-related macular degeneration. METHODS: Screening for mutations in the ABCA4 gene was performed using denaturing high-performance liquid chromatography and direct...

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Share to ATP-Binding Cassette Transporters
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Structure, Tertiary

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Source

Identifiers

PMID: 16681420
DOI: 10.1515/CCLM.2006.116

Genes

ABCA4
ABCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy.PMID 16681420Read ↗

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ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.Semantic proximity Read ↗

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.Semantic proximity Read ↗

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