Nature Genetics
- 38, 1360 - 1361 (2006)
doi:10.1038/ng1206-1360
A new piece in the nephrotic puzzleSusan E Quaggin
Susan E. Quaggin is at the Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada. quaggin@mshri.on.ca
A new study reports mutations in PLCE1 responsible for an autosomal recessive nephrotic syndrome in children that presents with diffuse mesangial sclerosis or focal segmental glomerulosclerosis. Remarkably, two affected individuals treated at an early phase of life responded to either steroids or cyclosporin A, opening a window of opportunity for therapy.
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