article_metadata: Junyu Zhang Hongbin Liu Zhiyuan Liu Yong Liao Luo Guo Honglian Wang Lin He Xiaodong Zhang Qinghe Xing
article_metadata: 10.1371/journal.pone.0053981
article_metadata: PLoS One
article_metadata: 2013;8(1):e53981.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23342054/
article_metadata: Alternative Splicing / genetics Mutation Polyendocrinopathies, Autoimmune / genetics Transcription Factors / genetics
article_metadata: Alternative Splicing / genetics Mutation Polyendocrinopathies, Autoimmune / genetics Transcription Factors / genetics Case Reports Research Support, Non-U.S. Gov't Adult Asian People / genetics Base Sequence Codon, Nonsense / genetics Computational Biology Exons / genetics Female Humans Male Pedigree Polyendocrinopathies, Autoimmune / pathology Polyendocrinopathies, Autoimmune / physiopathology RNA, Messenger / genetics RNA, Messenger / metabolism Siblings Young Adult APECED protein Codon, Nonsense RNA, Messenger Transcription Factors Autoimmune polyendocrinopathy syndrome, type 1
article_metadata: PMC3540864
article_metadata: 23342054
article_metadata: A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1
article_metadata: 2013