Browsing Bergen Open Research Archive by Author "Oftedal, Bergithe E. V."
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Autoimmune polyendocrine syndrome type I. Novel diagnostic assays and immune regulation
Oftedal, Bergithe E. V. (Doctoral thesis, 2012-02-10)Autoimmune polyendocrine syndrome type I (APS-I) is a rare, monogenetic recessively inherited disease caused by mutations in the autoimmune regulator (AIRE) gene. The patients display different endocrine and ectodermal ...