Article

Causal and Putative Pathogenic Mutations Identified in 38.6% of Children with Primary SRNS in South Africa

2022-01-11

Abstract excerpt

The aim was to identify causal mutations in genes implicated in steroid resistant nephrotic syndrome (SRNS) within a South African population. We enrolled 119 children with primary NS; 71 SRNS and 48 steroid-sensitive NS. All children with SRNS underwent kidney biopsy. We first genotyped the NPHS2 gene for the p.V260E variant in all NS cases (n= 119) and controls (n= 219). To further identify additional variants,...

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Literature Corpus work: 6e858cdd-2c04-560e-aff2-448327084530
DOI: 10.21203/rs.3.rs-1195453/v1

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