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

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

Abstract 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 du...

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Bibliographic Details
Main Authors: Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode-Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante
Format: Article
Language:English
Published: BMC 2019-07-01
Series:Pediatric Rheumatology Online Journal
Subjects:
WES
SLE
Monogenic
Online Access:http://link.springer.com/article/10.1186/s12969-019-0349-y

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http://link.springer.com/article/10.1186/s12969-019-0349-y

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