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Article

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

Human mutation - 1 Nov 2003

Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer M R, Caruso R C, Testa F, Maugeri A, Hoyng C B, Gouras P, Simonelli F, Lewis R A, Lupski J R, Cremers F P M, Allikmets R

Abstract excerpt

Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), and age-related macular degeneration (AMD). Comparative genetic analyses of ABCR variation and diagnostics...

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Source

Identifiers

PMID: 14517951
DOI: 10.1002/humu.10263

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14517951-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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