Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

Dystonia is a neurologic disorder associated with an increasingly large number of genetic variants in many genes, resulting in characteristic disturbances in volitional movement. Dissecting the relationships between these mutations and their functional outcomes is critical in understanding the pathw...

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Detalles Bibliográficos
Autores principales: Domingo, Aloysius, Yadav, Rachita, Shah, Shivangi, Hendriks, William T., Erdin, Serkan, Gao, Dadi, O’Keefe, Kathryn, Currall, Benjamin, Gusella, James F., Sharma, Nutan, Ozelius, Laurie J., Ehrlich, Michelle E., Talkowski, Michael E., Bragg, D. Cristopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595948/
https://www.ncbi.nlm.nih.gov/pubmed/34672987
http://dx.doi.org/10.1016/j.ajhg.2021.09.017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8595948/
https://www.ncbi.nlm.nih.gov/pubmed/34672987
http://dx.doi.org/10.1016/j.ajhg.2021.09.017

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