Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. [electronic resource]
Producer: 20150511Description: 1114-22 p. digitalISSN:- 1098-1004
- Adult
- Age of Onset
- Autophagy
- Cell Line
- Dystonia Musculorum Deformans -- diagnosis
- Female
- Gene Frequency
- Humans
- Intracellular Space -- metabolism
- Lysosomes -- metabolism
- Male
- Middle Aged
- Molecular Chaperones -- chemistry
- Mutation
- Phenotype
- Polymorphism, Single Nucleotide
- Protein Multimerization
- Protein Stability
- Protein Transport
- Proteolysis
- Signal Transduction
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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