Recessive mutation in EXOSC9 disrupts the exosome complex...

Neuromuscular Disorders 2017 / 10 Vol. 27

Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy

Donkervoort, S., Müller, J., Knierim, E., Bharucha-Goebel, D., Dyack, S., Burns, D., Hu, Y., Baker, L., Ezzo, D., Scavina, M., Foley, A., Schülke, M., Schülke, M., Bönnemann, C.
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Volume:
27
Language:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2017.06.303
Date:
October, 2017
File:
PDF, 261 KB
english, 2017
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