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

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 phe...

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Detalhes bibliográficos
Publicado no:Pediatr Rheumatol Online J
Main Authors: Tirosh, Irit, Spielman, Shiri, Barel, Ortal, Ram, Reut, Stauber, Tali, Paret, Gideon, Rubinsthein, Marina, Pessach, Itai M., Gerstein, Maya, Anikster, Yair, Shukrun, Rachel, Dagan, Adi, Adler, Katerina, Pode-Shakked, Ben, Volkov, Alexander, Perelman, Marina, Greenberger, Shoshana, Somech, Raz, Lahav, Einat, Majmundar, Amar J., Padeh, Shai, Hildebrandt, Friedhelm, Vivante, Asaf
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6668194/
https://ncbi.nlm.nih.gov/pubmed/31362757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-019-0349-y
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