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Mutation spectrum of PAX6 in Chinese patients with aniridia

PURPOSE: To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population. METHODS: Unrelated probands with aniridia from 27 newly selected families and six previously analyzed families participated in this study. The...

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Autori principali: Zhang, Xiaohui, Wang, Panfeng, Li, Shiqiang, Xiao, Xueshan, Guo, Xiangming, Zhang, Qingjiong
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3156780/
https://ncbi.nlm.nih.gov/pubmed/21850189
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