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A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma

PURPOSE: The paired box gene 6 (PAX6) is an essential transcription factor for eye formation. Genetic alterations in PAX6 can lead to various ocular malformations including aniridia. The purpose of this study was to identify genetic defects as the underlying cause of familial ocular coloboma in a la...

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Hlavní autoři: Guo, Hong, Dai, Limeng, Huang, Yanming, Liao, Qiong, Bai, Yun
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3859656/
https://ncbi.nlm.nih.gov/pubmed/24349436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0083073
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