A Novel Mutation in NFKBIA/IKBA Results in a Degradation-Resistant N-Truncated Protein and Is Associated With Ectodermal Dysplasia With Immunodeficiency

Alterations in nuclear factor kappa B (NF-κB) essential modulator (NEMO; HUGO-approved symbol IKBKG) underlie most cases of ectodermal dysplasia with immune deficiency (EDI), a human disorder characterized by anhidrosis with diminished immunity. EDI has also been associated with a single heterozygou...

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Main Authors: Lopez-Granados, Eduardo, Keenan, Jeffrey E., Kinney, Matthew C., Leo, Harvey, Jain, Neal, Ma, Chi A., Quinones, Ralph, Gelfand, Erwin W., Jain, Ashish
Format: Artigo
Sprog:Inglês
Udgivet: 2008
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3179847/
https://ncbi.nlm.nih.gov/pubmed/18412279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20740
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