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Article

Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.

Scandinavian journal of immunology - 1 Dec 2024

Sestan Mario, Arsov Todor, Kifer Nastasia, Frkovic Marijan, Grguric Danica, Ellyard Julia, Cook Matthew, Vinuesa Carola G, Jelusic Marija

Abstract excerpt

The purpose of this study was to identify new and low-frequency gene variants using whole exome sequencing (WES) in patients with childhood-onset systemic lupus erythematosus (cSLE), that may be involved in the pathogenesis of SLE. We performed WES on selected 17 trios (in some cases including other informative family members) in which the proband presented with severe, atypical clinical features, resistance to...

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PMID: 39380326
DOI: 10.1111/sji.13411

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