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Article

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.

Allergologia et immunopathologia - 1 Jan 2000

Zoghi S, Ziaee V, Hirschmugl T, Jimenez-Heredia R, Krolo A, Boztug K, Rezaei N

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Pediatric Systemic Lupus Erythematosus (pSLE) is an autoimmune disorder of children. Early disease onset raises the probability of genetic etiology and it is more severe than adult SLE. PATIENTS AND METHODS: Herein an eight-year-old girl with pSLE from consanguineous parents is reported. RESULTS: Although she was diagnosed as pSLE since the age of two years, Whole Exome Sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29739689
DOI: 10.1016/j.aller.2018.02.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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