Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

BACKGROUND: Mutations in proline-rich transmembrane protein 2 (PRRT2) are a cause of paroxysmal kinesigenic dyskinesia (PKD). In this study, we investigated the PRRT2 gene mutation in a Chinese Han family with PKD and study the pathogenesis of the mutation with PRRT2 gene. METHODS: Peripheral venous...

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Detalles Bibliográficos
Autores principales: Ji, Zhisong, Su, Quanxi, Hu, Lingling, Yang, Qi, Liu, Cuixian, Xiong, Jun, Xiong, Fu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107729/
https://www.ncbi.nlm.nih.gov/pubmed/25027704
http://dx.doi.org/10.1186/1471-2377-14-146

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