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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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| Main Authors: | , , , , , , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
American Society for Clinical Investigation
2008
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| 主題: | |
| 在線閱讀: | 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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