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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...

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Identifiers

PMID: 16543198
DOI: 10.1080/13816810500481667

Genes

PAX6

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