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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Detalles Bibliográficos
Autores principales: Cheng, Fubo, Walter, Michael, Wassouf, Zinah, Hentrich, Thomas, Casadei, Nicolas, Schulze-Hentrich, Julia, Barbuti, Peter, Krueger, Rejko, Riess, Olaf, Grundmann-Hauser, Kathrin, Ott, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7334247/
https://www.ncbi.nlm.nih.gov/pubmed/32112337
http://dx.doi.org/10.1007/s12031-020-01490-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7334247/
https://www.ncbi.nlm.nih.gov/pubmed/32112337
http://dx.doi.org/10.1007/s12031-020-01490-2

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