Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire

Homozygous loss-of-function mutations in AIRE cause autoimmune polyglandular syndrome type 1 (APS 1), which manifests in a classic triad of hypoparathyroidism, adrenal insufficiency, and candidiasis. Interestingly, a kindred with a specific G228W AIRE variant presented with an autosomal dominant aut...

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Detaylı Bibliyografya
Asıl Yazarlar: Su, Maureen A., Giang, Karen, Žumer, Kristina, Jiang, Huimin, Oven, Irena, Rinn, John L., DeVoss, Jason J., Johannes, Kellsey P.A., Lu, Wen, Gardner, James, Chang, Angela, Bubulya, Paula, Chang, Howard Y., Peterlin, B. Matija, Anderson, Mark S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 2008
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2293336/
https://ncbi.nlm.nih.gov/pubmed/18414681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI34523
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