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Article

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

Nature genetics - 1 Nov 1992

Glaser T, Walton D S, Maas R L

Abstract excerpt

Aniridia is a semidominant disorder in which development of the iris, lens, cornea and retina is disturbed. The mouse mutation Small eye (Sey), which has been proposed as a model for aniridia, results from defects in Pax-6, a gene containing paired-box and homeobox motifs that is specifically expressed in the developing eye and brain. To test the role of PAX6 in aniridia, we isolated human cDNA clones and...

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Source

Identifiers

PMID: 1345175
DOI: 10.1038/ng1192-232

Genes

PAX6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.PMID 1345175Read ↗

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Clinical and molecular aspects of aniridia.Semantic proximity Read ↗

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