Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia
Abstract Background Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons (PTCs). Methods Ophthalmic examination...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-05-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1198 |