Article
New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jul 2013
Hofstra Julia M, Lainez Sergio, van Kuijk Willie H M, Schoots Jeroen, Baltissen Marijke P A, Hoefsloot Lies H, Knoers Nine V A M, Berden Jo H M, Bindels René J M, van der Vlag Johan, Hoenderop Joost G J, Wetzels Jack F M, Nijenhuis Tom
Abstract excerpt
BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a leading cause of steroid-resistant nephrotic syndrome. Hereditary FSGS is frequently caused by mutations in important structural podocyte proteins, including the slit diaphragm-associated transient receptor potential channel C6 (TRPC6). M...
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