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

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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Zhang, Junyu, Liu, Hongbin, Liu, Zhiyuan, Liao, Yong, Guo, Luo, Wang, Honglian, He, Lin, Zhang, Xiaodong, Xing, Qinghe
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2013
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3540864/
https://ncbi.nlm.nih.gov/pubmed/23342054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0053981
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items