Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China

PURPOSE: Haplo-insufficiency at the paired box gene 6 (PAX6) locus causes aniridia,which is characterized by iris hypoplasia and other anterior and posterior eye defects leading to poor vision. This study aimed to identify novel PAX6 mutations that lead to familial and sporadic aniridia in northeast...

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Detalles Bibliográficos
Autores principales: Kang, Yang, Lin, Ying, Li, Xue, Wu, Qiong, Huang, Lei, Li, Qingjun, Hu, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398500/
https://www.ncbi.nlm.nih.gov/pubmed/22815628

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