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Article

Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.

Molecular vision - 1 Jan 2012

Park Shin Hae, Kim Man Soo, Chae Hyojin, Kim Yonggoo, Kim Myungshin

Abstract excerpt

PURPOSE: To analyze the paired box gene 6 (PAX6) in Korean patients with congenital aniridia. METHODS: Genomic DNA was isolated from peripheral blood leukocytes of 22 aniridia patients in 18 unrelated families. Polymerase chain reaction was performed for all 14 exons of PAX6 followed by bidirectional sequencing. RESULTS: Fourteen different kinds of mutations were detected in 16 of 18 unrelated families (mutation...

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Source

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Identifiers

PMID: 22393275
PMCID: PMC3291524

Genes

PAX6

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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