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...

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Vydáno v:Sci Rep
Hlavní autoři: Lee, Seowhang, Lee, Seung-Han, Heo, Hwan, Oh, Eun Hye, Shin, Jin-Hong, Kim, Hyang-Sook, Jung, Jae-Ho, Choi, Seo Young, Choi, Kwang-Dong, Lee, Hakbong, Lee, Changwook, Choi, Jae-Hwan
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2020
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Article
On-line přístup: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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