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Article

Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome

25 Mar 2019

Abstract excerpt

Significance Statement Mutations in >50 genes can lead to monogenic steroid-resistant nephrotic syndrome (SRNS). The authors found that a young patient with familial SRNS and FSGS carried novel compound-heterozygous mutations in NUP160 ; this gene encodes nucleoporin 160 kD, one of the protein components of the nuclear pore complex. Using an in vivo renal cell assay on the basis of Drosophila nephrocytes (an...

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PMID: 30910934
DOI: 10.1681/asn.2018080786

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