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SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology

OBJECTIVE: The SCN11A gene encodes the Na(V)1.9 sodium channel found exclusively in peripheral nociceptive neurons. METHODS: All enrolled participants were evaluated clinically by electrophysiologic studies, DNA sequencing, and punch skin biopsies. RESULTS: All affected family members are afflicted...

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Detalles Bibliográficos
Autores principales:	Castoro, Ryan, Simmons, Megan, Ravi, Vignesh, Huang, Derek, Lee, Christopher, Sergent, John, Zhou, Lan, Li, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055356/ https://www.ncbi.nlm.nih.gov/pubmed/30046661 http://dx.doi.org/10.1212/NXG.0000000000000255

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