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APOL1 genotyping is incomplete without testing for the protective M1 modifier p.N264K variant

20 Feb 2024

Abstract excerpt

Focal segmental glomerulosclerosis (FSGS), a pattern of injury seen in some patients with nephrotic syndrome, is a leading cause of chronic kidney disease (CKD) especially in people of African ancestry In 2008, using the method of Mapping by Admixture Linkage Disequilibrium (MALD), two studies discovered a locus on chromosome 22 as the genetic driver of high prevalence of hypertension associated end stage kidney...

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PMID: 38495868
DOI: 10.1159/000537948

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