Llwytho...

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2020
Pynciau:
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!