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Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype
The adult form of Sandhoff disease with the motor neuron disease phenotype is a rare neurodegenerative disorder caused by mutations in HEXB encoding the β-subunit of β-hexosaminidase, yet the properties of mutant β-subunits of the disease have not been fully determined. We identified a novel mutatio...
Kaydedildi:
| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Oxford University Press
2013
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3528005/ https://ncbi.nlm.nih.gov/pubmed/23127958 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jb/mvs131 |
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