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Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients

BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations. However, over two-third of sporadic PKD patients did not carry any PRRT2 mutation,...

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Detalles Bibliográficos
Autores principales: Wang, Hong-Xia, Li, Hong-Fu, Liu, Gong-Lu, Wen, Xiao-Dan, Wu, Zhi-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852666/
https://www.ncbi.nlm.nih.gov/pubmed/27098784
http://dx.doi.org/10.4103/0366-6999.180529