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Article

Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa.

Human mutation - 1 May 2004

Ozgül Riza Köksal, Durukan Hakan, Turan Ayse, Oner Cihan, Ogüs Ay, Farber Debora B

Abstract excerpt

The clinical importance of sequence variations in the ABCA4 gene has been extensively discussed during the last decade. Mutations in the ABCA4 gene are involved in several forms of inherited retinal degenerations. We screened all 50 exons of the ABCA4 gene in a cohort of 5 Stargardt Disease (STGD) and 35 autosomal recessive retinitis pigmentosa (arRP) patients of Turkish descent to assess the nature of ABCA4...

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Source

Identifiers

PMID: 15108289
DOI: 10.1002/humu.9236

Genes

ABCA4

Variants

Provenance

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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