Article
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
Human genetics - 1 Oct 1998
Rosatelli M C, Meloni A, Meloni A, Devoto M, Cao A, Scott H S, Peterson P, Heino M, Krohn K J, Nagamine K, Kudoh J, Shimizu N, Antonarakis S E
Abstract excerpt
Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED; also called APS-1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations. It is characterized by two of the three major clinical symptoms that may be present: Addison's disease, and/or hypoparathyroidism and/or chronic mucocutaneous candidiasis. We have recently identified the gene for APECED, which we...
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