Gain-of-function mutation of a voltage-gated sodium channel Na(V)1.7 associated with peripheral pain and impaired limb development

Dominant mutations in voltage-gated sodium channel Na(V)1.7 cause inherited erythromelalgia, a debilitating pain disorder characterized by severe burning pain and redness of the distal extremities. Na(V)1.7 is preferentially expressed within peripheral sensory and sympathetic neurons. Here, we descr...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Tanaka, Brian S., Nguyen, Phuong T., Zhou, Eray Yihui, Yang, Yong, Yarov-Yarovoy, Vladimir, Dib-Hajj, Sulayman D., Waxman, Stephen G.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2017
Assuntos:
Neurobiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5454107/
https://ncbi.nlm.nih.gov/pubmed/28381558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M117.778779
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