Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia

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...

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Bibliographic Details
Main Authors: Xiaoliang Liu, Yuanyuan Zhang, Bijun Zhang, Haiming Gao, Chuang Qiu
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
congenital aniridia
nonsense suppression therapy
nonsense‐mediated mRNA decay
PAX6
Online Access:https://doi.org/10.1002/mgg3.1198

Internet

https://doi.org/10.1002/mgg3.1198

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