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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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Detalhes bibliográficos
Publicado no:J Mol Neurosci
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Springer US 2020
Assuntos:
Acesso em linha: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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