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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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Détails bibliographiques
Publié dans:J Mol Neurosci
Auteurs principaux: 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
Langue:Inglês
Publié: Springer US 2020
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Accès en ligne: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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