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Article

An ABCA4 genomic deletion in patients with Stargardt disease.

Human mutation - 1 Jun 2003

Yatsenko Alexander N, Shroyer Noah F, Lewis Richard A, Lupski James R

Abstract excerpt

Stargardt disease (STGD1) segregates with mutations in the ABCA4 (ABCR) locus. However, mutations of the ABCA4 coding region detected by sequencing account for only 66-80% of disease chromosomes. We hypothesized a potential contribution of otherwise undetected genomic rearrangements of the ABCA4 region. To investigate this hypothesis, we performed genomic Southern analysis on samples from 96 STGD families in...

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Identifiers

PMID: 12754711
DOI: 10.1002/humu.10219

Genes

ABCA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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