Article
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation.
Kidney international - 1 Nov 2007
Löwik M M, Groenen P J T A, Pronk I, Lilien M R, Goldschmeding R, Dijkman H B, Levtchenko E N, Monnens L A, van den Heuvel L P
Abstract excerpt
Focal segmental glomerulosclerosis (FSGS) is a histologic diagnosis in several kidney diseases characterized by proteinuria and a severe decrease in kidney function. Mutations in several genes were found in patients with primary FSGS, one of which is a CD2-associated protein CD2AP (originally referred to as CMS). This gene encodes an adaptor protein that plays a role in endocytosis, cell motility, and cell...
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