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Article

Mutational screening of VSX1 in keratoconus patients from the European population.

Eye (London, England) - 1 Jun 2010

Dash D P, George S, O'Prey D, Burns D, Nabili S, Donnelly U, Hughes A E, Silvestri G, Jackson J, Frazer D, Héon E, Willoughby C E

Abstract excerpt

PURPOSE: To perform mutational screening of the visual system homeobox gene 1 (VSX1; MIM#605020) in patients with sporadic and familial keratoconus (MIM#148300) in a European population and, for the first time, report the mutational analysis of the two newly identified VSX1exons. METHODS: VSX1seq...

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Source

Identifiers

PMID: 19763142
DOI: 10.1038/eye.2009.217

Genes

VSX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19763142-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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