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Characterization of human torsinA and its dystonia-associated mutant form.
Deletion of a single glutamate in torsinA correlates with early-onset dystonia, the most severe form of a neurological disorder characterized by uncontrollable muscle contractions. TorsinA is targeted to the ER (endoplasmic reticulum) in eukaryotic cells. We investigated the processing and membrane...
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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2003
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1223590/ https://ncbi.nlm.nih.gov/pubmed/12780349 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20030258 |
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