Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

The exosome complex is the most important RNA processing machinery within the cell. Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system demyelination. We present a patient with SMA-like phenotype carrying a homozygous...

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Detalles Bibliográficos
Autores principales: Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181591/
https://www.ncbi.nlm.nih.gov/pubmed/27193168
http://dx.doi.org/10.1093/hmg/ddw149

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181591/
https://www.ncbi.nlm.nih.gov/pubmed/27193168
http://dx.doi.org/10.1093/hmg/ddw149

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