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An unbiased approach de-livers unexpected insight into torsin biology

Mutations affecting the integrity of the essential torsin ATPase/cofactor system have been identified in a steadily increasing number of congenital disorders. Since most of these mutations affect brain function, much of the research has focused on deciphering disease etiology in the brain. However,...

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Pubblicato in:J Clin Invest
Autori principali: Prophet, Sarah M., Schlieker, Christian
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6819095/
https://ncbi.nlm.nih.gov/pubmed/31589164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI132442
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