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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859656/ https://www.ncbi.nlm.nih.gov/pubmed/24349436 http://dx.doi.org/10.1371/journal.pone.0083073 |