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Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect

INTRODUCTION: Aicardi-Goutières (AGS) is a rare immune dysregulated disease due to mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or IFIH1. Clinical features include basal ganglia calcifications, white matter abnormalities, and cerebral atrophy. Severe systemic inflammation and chr...

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Detalles Bibliográficos
Autores principales:	He, Tingyan, Xia, Yu, Yang, Jun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821736/ https://www.ncbi.nlm.nih.gov/pubmed/33482855 http://dx.doi.org/10.1186/s12969-021-00497-2

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