Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

Ribosomal RNA (rRNA) is transcribed from rDNA by RNA polymerase I (Pol I) to produce the 45S precursor of the 28S, 5.8S, and 18S rRNA components of the ribosome. Two transcription factors have been defined for Pol I in mammals, the selectivity factor SL1, and the upstream binding transcription facto...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Edvardson, Simon, Nicolae, Claudia M., Agrawal, Pankaj B., Mignot, Cyril, Payne, Katelyn, Prasad, Asuri Narayan, Prasad, Chitra, Sadler, Laurie, Nava, Caroline, Mullen, Thomas E., Begtrup, Amber, Baskin, Berivan, Powis, Zöe, Shaag, Avraham, Keren, Boris, Moldovan, George-Lucian, Elpeleg, Orly
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5544390/
https://ncbi.nlm.nih.gov/pubmed/28777933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.07.002
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