A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract

PURPOSE: To identify the disease-causing gene in a four-generation Chinese family affected with autosomal dominant aniridia and cataract. METHODS: All patients underwent full ophthalmic examination. For mutation analysis, a partial coding region (exons 5–14) of paired box gene 6 (PAX6) was sequenced...

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Huvudupphovsmän: Cai, Fucheng, Zhu, Jianfang, Chen, Wen, Ke, Tie, Wang, Fang, Tu, Xin, Zhang, Ying, Jin, Runming, Wu, Xiaoyan
Materialtyp: Artigo
Språk:Inglês
Publicerad: Molecular Vision 2010
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Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2901194/
https://ncbi.nlm.nih.gov/pubmed/20664694
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