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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Humana Press Inc 2013
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3650253/
https://www.ncbi.nlm.nih.gov/pubmed/23292638
http://dx.doi.org/10.1007/s12017-012-8216-8

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