THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous. Mutations affecting mRNA and mRNA processing or export factors, which cause aberrant retention of mRNAs in the nuc...

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Publicat a:Am J Hum Genet
Autors principals: Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew F., Hackett, Anna, Field, Michael, Palmer, Elizabeth E., Leffler, Melanie, Rogers, Carolyn, Boyle, Jackie, Bienek, Melanie, Jensen, Corinna, Van Buggenhout, Griet, Van Esch, Hilde, Hoffmann, Katrin, Raynaud, Martine, Zhao, Huiying, Reed, Robin, Hu, Hao, Haas, Stefan A., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4573269/
https://ncbi.nlm.nih.gov/pubmed/26166480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.05.021
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