High variability of clinical symptoms in a Polish family with a novelTHAP1mutation
Author:
Publisher
Informa UK Limited
Subject
General Medicine,General Neuroscience
Link
http://www.tandfonline.com/doi/pdf/10.3109/00207454.2014.981749
Reference21 articles.
1. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
2. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
3. THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations
4. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies
5. The THAP–zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes
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