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PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia

AIMS: PRRT2 was recently identified as a causative gene for paroxysmal kinesigenic dyskinesia (PKD), and the c.649dupC mutation was shown to be a “high frequency” mutation. This mutation was also identified in many sporadic cases. This might be attributed to the incomplete penetrance of c.649dupC. A...

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Bibliografiset tiedot
Julkaisussa:CNS Neurosci Ther
Päätekijät: Li, Hong‐Fu, Ni, Wang, Xiong, Zhi‐Qi, Xu, Jianfeng, Wu, Zhi‐Ying
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2012
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6493561/
https://ncbi.nlm.nih.gov/pubmed/23176561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cns.12034
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