Article
NPHS2 R229Q functional variant is associated with microalbuminuria in the general population.
Kidney international - 1 Mar 2004
Pereira Alexandre C, Pereira Aparecido B, Mota Glória F, Cunha Roberto S, Herkenhoff Fernando L, Pollak Martin R, Mill José G, Krieger José E
Abstract excerpt
BACKGROUND: Microalbuminuria is a risk factor for developing end-stage renal disease and cardiovascular events. Mutations in NPHS2 have been shown to cause autosomal-recessive nephrotic syndrome. Recently, a functional polymorphism of this gene (R229Q) was described and associated with a maturity-onset form of nephrotic syndrome. We have investigated whether the carrier status of this novel genetic variant is...
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