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Article

Mutation analysis of PAX6 gene in a large Chinese family with aniridia.

Chinese medical journal - 20 Feb 2005

Song Shu-juan, Liu Ying-zhi, Cong Ri-chang, Jin Ying, Hou Zhi-qiang, Ma Zhi-zhong, Ren Guo-cheng, Li Ling-song

Abstract excerpt

BACKGROUND: Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. METHODS: Genomic DNA from venous blood samples was...

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Source

Identifiers

PMID: 15740668

Genes

PAX6
CGA

Provenance

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