Article
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.
American journal of human genetics - 1 Dec 1998
Pearce S H, Cheetham T, Imrie H, Vaidya B, Barnes N D, Bilous R W, Carr D, Meeran K, Shaw N J, Smith C S, Toft A D, Williams G, Kendall-Taylor P
Abstract excerpt
Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterized by autoimmune hypoparathyroidism, autoimmune adrenocortical failure, and mucocutaneous candidiasis. Recently, an autoimmune regulator gene (AIRE-1), which is located on chromosome 21q22.3, has been identified, and mutations in European kindreds with APS1 have been described. We used SSCP analysis and direct DNA sequencing...
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