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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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Detalhes bibliográficos
Main Authors: Kang, Yang, Lin, Ying, Li, Xue, Wu, Qiong, Huang, Lei, Li, Qingjun, Hu, Qi
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398500/
https://ncbi.nlm.nih.gov/pubmed/22815628
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