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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...

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Detalles Bibliográficos
Autores principales: Qian, Guofeng, Yan, Xiaoyi, Xuan, Junli, Zheng, Danfeng, He, Zhiwen, Shen, Jianguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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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