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

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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Bibliographic Details
Main Authors: Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita
Format: Online
Language:English
Published: Oxford University Press 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181591/

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