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Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis
Author(s) -
LouisPhilippe Laurin,
Mujun Lu,
Amy K. Mottl,
Esme Blyth,
Caroline J. Poulton,
K. E. Weck
Publication year - 2014
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gft532
Subject(s) - medicine , focal segmental glomerulosclerosis , podocyte , mutation , glomerulosclerosis , nephrotic syndrome , renal biopsy , population , genetic heterogeneity , pathology , gene , glomerulonephritis , biopsy , kidney , phenotype , proteinuria , genetics , biology , environmental health
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.

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