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Developmental patterns of torsinA and torsinB expression

Early onset torsion dystonia is characterized by involuntary movements and distorted postures and is usually caused by a 3-bp (GAG) deletion in the DYT1 (TOR1A) gene. DYT1 codes for torsinA, a member of the AAA(+) family of proteins, implicated in membrane recycling and chaperone functions. A close...

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Hlavní autoři: Vasudevan, Anju, Breakefield, Xandra O., Bhide, Pradeep G.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2006
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1472621/
https://ncbi.nlm.nih.gov/pubmed/16458269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.brainres.2005.12.087
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