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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 have been complicated by substantial allelic heterogeneity and by differences in screening methods. To overcome these...

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Source

Identifiers

PMID: 14517951
DOI: 10.1002/humu.10263

Genes

ABCA4

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Source receipt: pubmed, retrieved 7 Sept 2026.

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