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See Latest ArticlesPredisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains
Human Molecular Genetics, 07/28/09
Shono A et al. – The results suggest that C265R and V822M compose a dysfunctional SD complex due to their mixed defects comprising reduced cell surface targeting and ineffective assembly of signaling microdomains. The defective SD likely confers a susceptibility to immunogenic stimuli and predisposes to a relapsing phenotype.
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