Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia

OBJECTIVE: Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. We sought to investigate for SCN9A mutations in a clinically well-c...

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Detalles Bibliográficos
Autores principales: Klein, Christopher J, Wu, Yanhong, Kilfoyle, Dean H, Sandroni, Paola, Davis, Mark D, Gavrilova, Ralitza H, Low, Phillip A, Dyck, Peter J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3594382/
https://www.ncbi.nlm.nih.gov/pubmed/23129781
http://dx.doi.org/10.1136/jnnp-2012-303719

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