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Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

30 Jul 2019

Abstract excerpt

BACKGROUND: Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to phenotypic and genetic heterogeneity. METHODS: We employed whole exome sequencing (WES) in patients presenting with...

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PMID: 31362757
DOI: 10.1186/s12969-019-0349-y

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