Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype

Congenital insensitivity to pain (OMIM 243000) is an extremely rare disorder caused by loss-of-function mutations in SCN9A encoding Nav1.7. Although the SCN9A mutations and phenotypes of painlessness and anosmia/hyposmia in patients are previously well documented, the complex relationship between ge...

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Detalles Bibliográficos
Autores principales: Sun, Jiaoli, Li, Lulu, Yang, Luyao, Duan, Guangyou, Ma, Tingbin, Li, Ningbo, Liu, Yi, Yao, Jing, Liu, Jing Yu, Zhang, Xianwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235659/
https://www.ncbi.nlm.nih.gov/pubmed/32420800
http://dx.doi.org/10.1177/1744806920923881

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