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Impaired DNA-binding affinity of novel PAX6 mutations
Mutations in human PAX6 gene are associated with various congenital eye malformations including aniridia, foveal hypoplasia, and congenital nystagmus. These various phenotypes may depend on the mutation spectrums that can affect DNA-binding affinity, although this hypothesis is debatable. We screene...
Tallennettuna:
| Julkaisussa: | Sci Rep |
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| Päätekijät: | , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group UK
2020
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7046147/ https://ncbi.nlm.nih.gov/pubmed/32080308 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-60017-2 |
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