Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Mol Genet Genomic Med |
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| Prif Awduron: | , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
John Wiley and Sons Inc.
2020
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| Pynciau: | |
| Mynediad Ar-lein: | 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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