Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients.

doi:10.1080/13816810500481667

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Article

Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients.

Ophthalmic genetics - 1 Mar 2006

Atchaneeyasakul La-Ongsri, Trinavarat Adisak, Dulayajinda Dhaivadee, Kumpornsin Kornphet, Thongnoppakhun Wanna, Yenchitsomanus Pa-thai, Limwongse Chanin

Abstract excerpt

PURPOSE: To describe the ophthalmic findings and mutation analyses of the PAX6 gene in Thai aniridia patients. METHODS: Ten patients from six unrelated families underwent a comprehensive ophthalmic examination. Mutations in the PAX6 gene were screened by single-strand conformational polymorphism (SSCP) and direct DNA sequencing of the SSCP variants. RESULTS: Seven patients developed cataracts and six developed...

Topics

Adolescent
Adult
Aged
Aniridia
Child
Child, Preschool
Codon, Nonsense
DNA Mutational Analysis
Eye
Eye Proteins
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Homeodomain Proteins

Humans

Male

Middle Aged

PAX6 Transcription Factor

Paired Box Transcription Factors

Source

Open in PubMed

Identifiers

PMID: 16543198
DOI: 10.1080/13816810500481667

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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