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

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 was pe...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Liu, Xiaoliang, Zhang, Yuanyuan, Zhang, Bijun, Gao, Haiming, Qiu, Chuang
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216799/
https://ncbi.nlm.nih.gov/pubmed/32125788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1198
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