Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

RNA exosomes are multi-subunit complexes conserved throughout evolution(1) and emerging as the major cellular machinery for processing, surveillance, and turnover of a diverse spectrum of coding and non-coding RNA substrates essential for viability(2). By exome sequencing, we discovered recessive mu...

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Detalles Bibliográficos
Autores principales: Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P., Hong, Ji Eun, Leong, Derek W., Senderek, Jan, Salman, Michael S., Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J., Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B., Salamon, Noriko, Kim, Ronald C., Vinters, Harry V., Chen, Zugen, Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Jen, Joanna C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366034/
https://www.ncbi.nlm.nih.gov/pubmed/22544365
http://dx.doi.org/10.1038/ng.2254

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366034/
https://www.ncbi.nlm.nih.gov/pubmed/22544365
http://dx.doi.org/10.1038/ng.2254

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