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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Detalles Bibliográficos
Autores principales: Chen, Jian Huan, Lin, Weitao, Sun, Guoying, Huang, Chukai, Huang, Yuqiang, Chen, Haoyu, Pang, Chi Pui, Zhang, Mingzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339035/
https://www.ncbi.nlm.nih.gov/pubmed/22550392

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