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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2015
Gaiak:
Sarrera elektronikoa: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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