A recurrent de novo missense mutation in UBTF causes developmental neuroregression

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UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns of neuroregression due to recurrent de novo mutations...

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Detalles Bibliográficos
Autores principales: Toro, Camilo, Hori, Roderick T, Malicdan, May Christine V, Tifft, Cynthia J, Goldstein, Amy, Gahl, William A, Adams, David R, Fauni, Harper B, Wolfe, Lynne A, Xiao, Jianfeng, Khan, Mohammad M, Tian, Jun, Hope, Kevin A, Reiter, Lawrence T, Tremblay, Michel G, Moss, Tom, Franks, Alexis L, Balak, Chris, LeDoux, Mark S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886272/
https://www.ncbi.nlm.nih.gov/pubmed/29300972
http://dx.doi.org/10.1093/hmg/ddx435

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