Article
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Nov 2014
Laurin Louis-Philippe, Lu Mei, Mottl Amy K, Blyth Elizabeth R, Poulton Caroline J, Weck Karen E
Abstract excerpt
BACKGROUND: The utility of genetic testing in sporadic focal segmental glomerulosclerosis (FSGS) is unclear. We sought to determine the frequency of podocyte-related gene mutations in a heterogeneous population of adults and children with biopsy-proven FSGS. METHODS: The prevalence of pathogenic mutations in five genes (NPHS2, TRPC6, ACTN4, INF2 and PLCE1) and of APOL1 risk alleles (G1 and G2) was ascertained in...
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