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Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation

Primary dystonia is a disease characterized by involuntary twisting movements caused by CNS dysfunction without underlying histopathology. DYT1 dystonia is a form of primary dystonia caused by an in-frame GAG deletion (ΔE302/3) in the TOR1A gene that encodes the endoplasmic reticulum luminal protein...

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Autors principals: Goodchild, Rose E., Dauer, William T.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2004
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC321769/
https://ncbi.nlm.nih.gov/pubmed/14711988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0304375101
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