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Article

Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.

Ophthalmic genetics - 1 Dec 2012

Duno Morten, Schwartz Marianne, Larsen Pernille L, Rosenberg Thomas

Abstract excerpt

BACKGROUND: Pathogenic variations in the ABCA4 gene were originally recognized as genetic background for the autosomal recessive disorders Stargardt disease and fundus flavimaculatus, but have expanded to embrace a diversity of retinal diseases, giving rise to the new diagnostic term, ABCA4-related retinopathy. Diagnostic genotyping of ABCA4 is complicated by the large size of the gene and the existence of...

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Source

Identifiers

PMID: 22229821
DOI: 10.3109/13816810.2011.643441

Genes

ABCA4

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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