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Detection of genetic mutations underlying early-onset systemic lupus erythematosus.

Lupus - 1 Aug 2024

Sener Seher, Sag Erdal, Han Xu, Bilginer Yelda, Zhou Qing, Ozen Seza

Abstract excerpt

OBJECTIVE: We aimed to investigate the presence of monogenic causes of systemic lupus erythematosus (SLE) in our early-onset SLE patients. METHODS: Fifteen pediatric SLE cases who had early disease onset (≤6 years) were enrolled in this study. All patients fulfilled the Systemic Lupus International Collaborating Clinics (SLICC) criteria. Genomic DNA was used for whole exome sequencing (WES). Pathogenic variants...

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PMID: 38739464
DOI: 10.1177/09612033241255011

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