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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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| Autores principales: | , , , , , , , , , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
American Society for Clinical Investigation
2008
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| Materias: | |
| Acceso en línea: | 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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