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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

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