APECED mutations in the autoimmune regul
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Maarit Heino; PΓ€rt Peterson; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E. Antonara
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Article
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2001
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John Wiley and Sons
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English
β 336 KB
Autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED) is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addisons disease, hypoparathyroidism