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Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation

OBJECTIVE: Proteasome‐associated autoinflammatory syndrome (PRAAS) is caused by mutations affecting components of the proteasome and activation of the type I interferon (IFN) pathway. This study was undertaken to investigate the pathogenic mechanisms of a newly recognized type of PRAAS caused by PSM...

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Detalles Bibliográficos
Autores principales:	Yan, Kai, Zhang, Jiahui, Lee, Pui Y., Tao, Panfeng, Wang, Jun, Wang, Shihao, Zhou, Qing, Dong, Minyue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wiley Periodicals, Inc. 2022
Materias:	Autoinflammatory Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321778/ https://www.ncbi.nlm.nih.gov/pubmed/35080150 http://dx.doi.org/10.1002/art.42070

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