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Mutation analysis of paired box 6 gene in inherited aniridia in northern China

PURPOSE: Aniridia is phenotypically and genetically heterogeneous. This study is to summarize the phenotypes and identify the underlying genetic cause of the paired box 6 (PAX6) gene responsible for aniridia in two three-generation Chinese families in northern China. METHODS: A detailed family histo...

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Detalles Bibliográficos
Autores principales: Chen, Peng, Zang, Xinjie, Sun, Dapeng, Wang, Ye, Wang, Yao, Zhao, Xiaowen, Zhang, Mohan, Xie, Lixin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669533/
https://www.ncbi.nlm.nih.gov/pubmed/23734086