Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections

Volume: 220, Issue: 3, Pages: 422 - 427
Published: Mar 1, 2015
Abstract
C1q deficiency is a rare genetic disorder that is strongly associated with development of systemic lupus erythematosus (SLE). Several mutations in the coding regions of the C1q genes have been described that result in stop-codons or other genetic abnormalities ultimately leading to C1q deficiency. Here we report on a Dutch boy suffering from recurrent infections with a complete C1q deficiency, without any SLE symptoms. The presence of C1q in...
Paper Details
Title
Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections
Published Date
Mar 1, 2015
Volume
220
Issue
3
Pages
422 - 427
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