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A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
PURPOSE: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus. METHODS: The entire coding region of paired box gene 6 (PAX6) was amplified by poly...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127359/ https://www.ncbi.nlm.nih.gov/pubmed/30197953 http://dx.doi.org/10.1016/j.joco.2017.12.006 |