Article
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
PloS one - 1 Jan 2013
Zhang Junyu, Liu Hongbin, Liu Zhiyuan, Liao Yong, Guo Luo, Wang Honglian, He Lin, Zhang Xiaodong, Xing Qinghe
Abstract excerpt
Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE) gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous...
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