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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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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5181591/ https://ncbi.nlm.nih.gov/pubmed/27193168 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw149 |
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