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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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D.A. Spandidos
2015
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316949/ https://www.ncbi.nlm.nih.gov/pubmed/25667652 http://dx.doi.org/10.3892/etm.2014.2155 |