An SCN9A channelopathy causes congenital inability to experience pain

The complete inability to sense pain in an otherwise healthy individual is a very rare phenotype. In three consanguineous families from northern Pakistan, we mapped the condition as an autosomal-recessive trait to chromosome 2q24.3. This region contains the gene SCN9A, encoding the α-subunit of the...

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Gepubliceerd in:Nature
Hoofdauteurs: Cox, James J., Reimann, Frank, Nicholas, Adeline K., Thornton, Gemma, Roberts, Emma, Springell, Kelly, Karbani, Gulshan, Jafri, Hussain, Mannan, Jovaria, Raashid, Yasmin, Al-Gazali, Lihadh, Hamamy, Henan, Valente, Enza Maria, Gorman, Shaun, Williams, Richard, McHale, Duncan P., Wood, John N., Gribble, Fiona M., Woods, C. Geoffrey
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2006
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7212082/
https://ncbi.nlm.nih.gov/pubmed/17167479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature05413
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