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Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia

Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) are responsible for DYT6 dystonia. Until now, more than eighty different mutations in THAP1 gene have been found in patients with primary dystonia, and two third of them are missense mutations. The potential pathogeneses of t...

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Bibliographische Detailangaben
Veröffentlicht in:J Mol Neurosci
Hauptverfasser: Cheng, Fubo, Walter, Michael, Wassouf, Zinah, Hentrich, Thomas, Casadei, Nicolas, Schulze-Hentrich, Julia, Barbuti, Peter, Krueger, Rejko, Riess, Olaf, Grundmann-Hauser, Kathrin, Ott, Thomas
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer US 2020
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7334247/
https://ncbi.nlm.nih.gov/pubmed/32112337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12031-020-01490-2
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