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A novel PAX6 deletion in a Chinese family with congenital aniridia

PURPOSE: To identify a disease-causing paired box 6 (PAX6) gene mutation in a Chinese family affected by autosomal dominant congenital aniridia. METHODS: All participants in the study, including the aniridia family and 100 unrelated senile cataract controls, received a comprehensive ophthalmic exami...

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Autors principals: Chen, Jian Huan, Lin, Weitao, Sun, Guoying, Huang, Chukai, Huang, Yuqiang, Chen, Haoyu, Pang, Chi Pui, Zhang, Mingzhi
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3339035/
https://ncbi.nlm.nih.gov/pubmed/22550392
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