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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...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7046147/ https://www.ncbi.nlm.nih.gov/pubmed/32080308 http://dx.doi.org/10.1038/s41598-020-60017-2

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