Preliminary study on pathogenic mechanism of first Chinese family with PNKD

BACKGROUND: The first Chinese family with paroxysmal non-kinesigenic dystonia (PNKD) was confirmed to harbour a PNKD mutation. However, the pathogenic mechanism of the PNKD-causing gene mutation was unclear. METHODS: Wild-type and mutant PNKD-L plasmids were prepared and transfected into the C6 cell...

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Detalles Bibliográficos
Autores principales: Chen, Feng, Zhang, Shaohui, Liu, Tinghong, Yuan, Liu, Wang, Yangshuo, Zhang, Guojun, Liang, Shuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9186512/
https://www.ncbi.nlm.nih.gov/pubmed/35795196
http://dx.doi.org/10.1515/tnsci-2022-0222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9186512/
https://www.ncbi.nlm.nih.gov/pubmed/35795196
http://dx.doi.org/10.1515/tnsci-2022-0222

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