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Article

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

Ophthalmology - 1 Jan 2011

Booij Judith C, Bakker Arne, Kulumbetova Jamilia, Moutaoukil Youssef, Smeets Bert, Verheij Joke, Kroes Hester Y, Klaver Caroline C W, van Schooneveld Mary, Bergen Arthur A B, Florijn Ralph J

Abstract excerpt

PURPOSE: To develop a high-throughput, cost-effective diagnostic strategy for the identification of known and new mutations in 90 retinal disease genes. DESIGN: Evidence-based study. PARTICIPANTS: Sixty patients with a variety of retinal disorders, including Leber's congenital amaurosis, ocular a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20801516
DOI: 10.1016/j.ophtha.2010.04.022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20801516-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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