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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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Bibliografiset tiedot
Päätekijät: Kurban, Mazen, Wajid, Muhammad, Shimomura, Yutaka, Christiano, Angela M.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: S. Karger AG 2010
Aiheet:
Linkit: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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