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Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

OBJECTIVE: To examine rare KCNJ18 variations recently reported to cause sporadic and thyrotoxic hypokalaemic periodic paralysis (TPP). METHODS: We sequenced KCNJ18 in 474 controls (400 Caucasians, 74 male Asians) and 263 unrelated patients with periodic paralysis (PP), including 30 patients with TPP...

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Detalles Bibliográficos
Autores principales:	Kuhn, Marius, Jurkat-Rott, Karin, Lehmann-Horn, Frank
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2016
Materias:	Neurogenetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717442/ https://www.ncbi.nlm.nih.gov/pubmed/25882930 http://dx.doi.org/10.1136/jnnp-2014-309293

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