Junyu Zhang Hongbin Liu Zhiyuan Liu Yong Liao Luo Guo Honglian Wang Lin He Xiaodong Zhang Qinghe Xing
10.1371/journal.pone.0053981
PLoS One
2013;8(1):e53981.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23342054/
Alternative Splicing / genetics Mutation Polyendocrinopathies, Autoimmune / genetics Transcription Factors / genetics
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
PMC3540864
23342054
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1
2013