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Article

PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India.

Ophthalmic genetics - 1 Sept 2003

Dharmaraj Neeraja, Reddy Aramati, Kiran Velamakanni, Mandal Anil, Panicker Shirly, Chakrabarti Subhabrata

Abstract excerpt

In order to understand the underlying molecular genetic defect causing aniridia in India, eight probands from sporadic cases were screened for all 14 exons of the PAX6 gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). Direct sequencing of the SSCP variants r...

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Source

Identifiers

PMID: 12868034
DOI: 10.1076/opge.24.3.161.15607

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12868034-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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