Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
Human Genetics
Molecular genetics
Journal
iScience
ISSN: 2589-0042
Titre abrégé: iScience
Pays: United States
ID NLM: 101724038
Informations de publication
Date de publication:
16 Jun 2023
16 Jun 2023
Historique:
received:
13
12
2022
revised:
20
03
2023
accepted:
02
05
2023
medline:
26
5
2023
pubmed:
26
5
2023
entrez:
26
5
2023
Statut:
epublish
Résumé
Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (
Identifiants
pubmed: 37235056
doi: 10.1016/j.isci.2023.106818
pii: S2589-0042(23)00895-7
pmc: PMC10206195
doi:
Types de publication
Journal Article
Langues
eng
Pagination
106818Informations de copyright
© 2023 The Author(s).
Déclaration de conflit d'intérêts
The authors declare no competing interests.
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