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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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| Publicado en: | Mol Genet Genomic Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acceso en liña: | 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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