Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors

BACKGROUND: Mutations in the transcription factor, KLF1, are common within certain populations of the world. Heterozygous missense mutations in KLF1 mostly lead to benign phenotypes, but a heterozygous mutation in a DNA-binding residue (E325K in human) results in severe Congenital Dyserythropoietic...

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Gepubliceerd in:BMC Genomics
Hoofdauteurs: Ilsley, Melissa D., Huang, Stephen, Magor, Graham W., Landsberg, Michael J., Gillinder, Kevin R., Perkins, Andrew C.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2019
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6534859/
https://ncbi.nlm.nih.gov/pubmed/31126231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-019-5805-z
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