Redefining the MED13L syndrome

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heteroz...

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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Adegbola, Abidemi, Musante, Luciana, Callewaert, Bert, Maciel, Patricia, Hu, Hao, Isidor, Bertrand, Picker-Minh, Sylvie, Le Caignec, Cedric, Delle Chiaie, Barbara, Vanakker, Olivier, Menten, Björn, Dheedene, Annelies, Bockaert, Nele, Roelens, Filip, Decaestecker, Karin, Silva, João, Soares, Gabriela, Lopes, Fátima, Najmabadi, Hossein, Kahrizi, Kimia, Cox, Gerald F, Angus, Steven P, Staropoli, John F, Fischer, Ute, Suckow, Vanessa, Bartsch, Oliver, Chess, Andrew, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M, Kalscheuer, Vera M
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2015
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4592099/
https://ncbi.nlm.nih.gov/pubmed/25758992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.26
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