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Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis

Paroxysmal kinesigenic dyskinesia (PKD) is an autosomal dominant disorder and PRRT2 is the causative gene of PKD. The aim of this study was to investigate PRRT2 mutations in patients who were clinically diagnosed with PKD. Nine PKD cases, including four familial cases and five sporadic cases, were s...

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Publicado en:Exp Ther Med
Autor Principal: CHEN, GUO-HONG
Formato: Artigo
Idioma:Inglês
Publicado: D.A. Spandidos 2015
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4316949/
https://ncbi.nlm.nih.gov/pubmed/25667652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2014.2155
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