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Novel SOX2 Mutation Associated With Ocular Coloboma in a Chinese Family

1 May 2008

Abstract excerpt

OBJECTIVES: To report a novel SOX2 (OMIM 184429) mutation in a Chinese family and to describe its ocular and extraocular clinical features. METHODS: Ocular and systemic examinations were performed, and genomic DNA was prepared from peripheral leukocytes. The coding exons and the adjacent intronic sequence of SOX2 were analyzed by cycle sequencing. RESULTS: A novel heterozygous c.695C>A (p.Thr232Asn) mutation in...

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PMID: 18474784
DOI: 10.1001/archopht.126.5.709

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