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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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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2020
Sujets:
Accès en ligne: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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