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A Nonsense Mutation in the SCN9A Gene in Congenital Insensitivity to Pain

BACKGROUND: Congenital insensitivity to pain (CIP) (OMIM 243000) is a rare autosomal-recessive disorder. Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene e...

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Detalhes bibliográficos
Main Authors: Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Christiano, Angela M.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2969160/
https://ncbi.nlm.nih.gov/pubmed/20628234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000314692
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