Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1

Haploinsufficiency of Forkhead box protein P1 (FOXP1), a highly conserved transcription factor, leads to developmental delay, intellectual disability, autism spectrum disorder, speech delay, and dysmorphic features. Most of the reported FOXP1 mutations occur on the C-terminus of the protein and clus...

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Vydáno v:Sci Rep
Hlavní autoři: Johnson, Tyler B., Mechels, Keegan, Anderson, Ruth Ellen, Cain, Jacob T., Sturdevant, David A., Braddock, Stephen, Pinz, Hailey, Wilson, Mark A., Landsverk, Megan, Roux, Kyle J., Weimer, Jill M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6212433/
https://ncbi.nlm.nih.gov/pubmed/30385778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-34437-0
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