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A molecular mechanism underlying the neural-specific defect in torsinA mutant mice

A striking but poorly understood feature of many diseases is the unique involvement of neural tissue. One example is the CNS-specific disorder DYT1 dystonia, caused by a 3-bp deletion (“ΔE”) in the widely expressed gene TOR1A. Disease mutant knockin mice (Tor1a(ΔE/ΔE)) exhibit disrupted nuclear memb...

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Detalhes bibliográficos
Main Authors: Kim, Connie E., Perez, Alex, Perkins, Guy, Ellisman, Mark H., Dauer, William T.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2906867/
https://ncbi.nlm.nih.gov/pubmed/20457914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0912877107
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