Article
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Nov 2008
Heeringa Saskia F, Vlangos Christopher N, Chernin Gil, Hinkes Bernward, Gbadegesin Rasheed, Liu Jinhong, Hoskins Bethan E, Ozaltin Fatih, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND: Congenital nephrotic syndrome (CNS) is de- fined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of life. CNS of the Finnish-type (CNF) features a rather specific renal histology and is caused by recessive mutations in the NPHS1 gene encoding nephrin, a major structural protein of the...
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