Complement Activation in 22q11.2 Deletion Syndrome

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A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.

The regulators of complement activation cluster at chromosome 1q32 contains the complement factor H (CFH) and five complement factor H-related (CFHR) genes. This area of the genome arose from several large genomic duplications, and these low-copy repeats can cause genome instability in this region. Genomic disorders affecting these genes have been described in atypical hemolytic uremic syndrome...

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ژورنال

عنوان ژورنال: Journal of Clinical Immunology

سال: 2020

ISSN: 0271-9142,1573-2592

DOI: 10.1007/s10875-020-00766-x