Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

PURPOSE: Mediator is a multiprotein complex that allows the transfer of genetic information from DNA binding proteins to the RNA polymerase II during transcription initiation. MED12L is a subunit of the kinase module, which is one of the four sub-complexes of the mediator complex. Other subunits of...

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Publicado en:Genet Med
Autores principales: Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Caignec, Cédric Le, Gérard, Marion, Dieterich, Klaus, Cho, Megan Truitt, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, Isidor, Bertrand
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7243155/
https://ncbi.nlm.nih.gov/pubmed/31155615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0557-3
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