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Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription

The human general transcription factor TFIID is composed of the TATA-binding protein (TBP) and 13 TBP-associated factors (TAFs). In eukaryotic cells, TFIID is thought to nucleate RNA polymerase II (Pol II) preinitiation complex formation on all protein coding gene promoters and thus, be crucial for...

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Detalles Bibliográficos
Autores principales:	El-Saafin, Farrah, Curry, Cynthia, Ye, Tao, Garnier, Jean-Marie, Kolb-Cheynel, Isabelle, Stierle, Matthieu, Downer, Natalie L, Dixon, Mathew P, Negroni, Luc, Berger, Imre, Thomas, Tim, Voss, Anne K, Dobyns, William, Devys, Didier, Tora, Laszlo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2018
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985725/ https://www.ncbi.nlm.nih.gov/pubmed/29648665 http://dx.doi.org/10.1093/hmg/ddy126

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