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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2018-09-01
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| Series: | Journal of Current Ophthalmology |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2452232517301555 |