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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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Detaylı Bibliyografya
Asıl Yazarlar: Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Christiano, Angela M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2010
Konular:
Online Erişim: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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