Article
Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.
Kidney international - 1 Jul 2005
Dusel Judith A Engeler, Burdon Kathryn P, Hicks Pamela J, Hawkins Gregory A, Bowden Donald W, Freedman Barry I
Abstract excerpt
BACKGROUND: Podocin, encoded by NPHS2 and mapped to 1q25.2, is an integral membrane protein exclusively expressed in glomerular podocytes. Mutations in the NPHS2 gene cause autosomal-recessive nephrotic syndrome and have been associated with proteinuria in several populations. Evidence for linkage of end-stage renal disease (ESRD) to chromosome 1q25-31 in the region of NPHS2 has been identified in a genome-wide...
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