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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Zhang, Junyu, Liu, Hongbin, Liu, Zhiyuan, Liao, Yong, Guo, Luo, Wang, Honglian, He, Lin, Zhang, Xiaodong, Xing, Qinghe
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados