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Article

Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.

Eye (London, England) - 1 Jan 2010

Passerini I, Sodi A, Giambene B, Mariottini A, Menchini U, Torricelli F

Abstract excerpt

PURPOSE: Stargardt disease (STGD) is the most prevalent juvenile macular dystrophy, and it has been associated with mutations in the ABCR gene, encoding a photoreceptor-specific transport protein. In this study, we determined the mutation spectrum in the ABCR gene in a group of Italian STGD patients. METHODS: The DNA samples of 71 Italian patients (from 62 independent pedigrees), affected with autosomal recessive...

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PMID: 19265867
DOI: 10.1038/eye.2009.35

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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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