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

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作者： Donkervoort, S. ^[1] ; Muller, J. ^[2] ; Knierim, E. ^[3] ; Bharucha-Goebel, D. ^[4] ; Dyack, S. ^[5] ; Burns, D. ; Hu, Y. ; Baker, L. ; Ezzo, D. ; Scavina, M. ; Foley, A. ; Schulke, M. ; Bonnemann, C.

作者单位： Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England ^[1] Charite, Berlin, Germany ^[2] Dalhousie Univ, Halifax, NS, Canada ^[3] NINDS, NIH, Bethesda, MD 20892 USA ^[4] AI Pont Hosp Children, Wilmington, DE USA ^[5]

发布时间 2020-08-22

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Neuromuscular disorders

2017年27卷Suppl.2期

S176-S177页

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

Neuromuscular disorders

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Neuromuscular disorders

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

Neuromuscular disorders

相似文献

Neuromuscular disorders

相关期刊

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