Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency

Ectodermal dysplasia with immune deficiency (EDI) is an immunological and developmental disorder caused by alterations in the gene encoding NF-κB essential modulator (NEMO; also known as IκB kinase γ subunit [IKKγ]). Missense mutations in the gene encoding NEMO are associated with reduced signal-ind...

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Detalhes bibliográficos
Main Authors: Temmerman, Stephane T., Ma, Chi A., Zhao, Yongge, Keenan, Jeffrey, Aksentijevich, Ivona, Fessler, Margaret, Brown, Margaret R., Knutsen, Alan, Shapiro, Ralph, Jain, Ashish
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3248277/
https://ncbi.nlm.nih.gov/pubmed/22156202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI42534
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