Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary Erythromelalgia

We identified and clinically investigated two patients with primary erythromelalgia mutations (PEM), which are the first reported to map to the fourth domain of Nav1.7 (DIV). The identified mutations (A1746G and W1538R) were cloned and transfected to cell cultures followed by electrophysiological an...

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Detalhes bibliográficos
Main Authors: Cregg, Roman, Laguda, Bisola, Werdehausen, Robert, Cox, James J., Linley, John E., Ramirez, Juan D., Bodi, Istvan, Markiewicz, Michael, Howell, Kevin J., Chen, Ya-Chun, Agnew, Karen, Houlden, Henry, Lunn, Michael P., Bennett, David L. H., Wood, John N., Kinali, Maria
Formato: Artigo
Idioma:Inglês
Publicado em: Humana Press Inc 2013
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Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3650253/
https://ncbi.nlm.nih.gov/pubmed/23292638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12017-012-8216-8
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