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A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

Deficiency of the IL-1 receptor antagonist (DIRA) is a recently described rare autoinflammatory disease, caused by loss of function mutations in IL1RN leading to the unopposed activation of the IL-1 pathway. We describe a novel nonsense mutation in the IL1RN gene, associated with early intrauterine...

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Detalhes bibliográficos
Main Authors: Altiok, Ender, Aksoy, Figen, Perk, Yıldız, Taylan, Fulya, Kim, Peter W., Ilıkkan, Barbaros, Asal, Gülten Turkkani, Goldbach-Mansky, Raphaela, Sanal, Ozden
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3463868/
https://ncbi.nlm.nih.gov/pubmed/22940634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clim.2012.08.003
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