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Article

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

Investigative ophthalmology & visual science - 1 Sept 2001

Briggs C E, Rucinski D, Rosenfeld P J, Hirose T, Berson E L, Dryja T P

Abstract excerpt

PURPOSE: To determine the spectrum of ABCR mutations associated with Stargardt macular degeneration and cone-rod degeneration (CRD). METHODS: One hundred eighteen unrelated patients with recessive Stargardt macular degeneration and eight with recessive CRD were screened for mutations in ABCR (ABCA4) by single-strand conformation polymorphism analysis. Variants were characterized by direct genomic sequencing....

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Share to ATP-Binding Cassette Transporters
Share to Macular Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Photoreceptor Cells, Vertebrate

Share to Polymorphism, Genetic

Share to Polymorphism, Single-Stranded Conformational

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Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 11527935

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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