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A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1
Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare inherited monogenic autoimmune disease characterized by the presence of at least two of three following major clinical features: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Mutations in autoimmune regula...
Autores principales: | Qian, Guofeng, Yan, Xiaoyi, Xuan, Junli, Zheng, Danfeng, He, Zhiwen, Shen, Jianguo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441485/ https://www.ncbi.nlm.nih.gov/pubmed/36072346 http://dx.doi.org/10.3389/fcell.2022.948350 |
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