A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

@inproceedings{Zhang2013AFA,
  title={A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1},
  author={Junyu Zhang and Hongbin Liu and Zhiyuan Liu and Yong Liao and Luo Guo and Honglian Wang and Lin He and Xiaodong Zhang and Qinghe Xing},
  booktitle={PloS one},
  year={2013}
}
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 Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron… CONTINUE READING
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