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1. 1. Nephrin : intracellular trafficking and podocyte maturation

   Författare :Stefania Cotta Doné; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Nephrin; CNF; podocytes; glomerulus;

   Sammanfattning : Congenital nephrotic syndrome of the Finnish type, CNF, is an autossomal recessive disorder caused by mutations in the NPHS1 gene and, consequently, in its product nephrin, a 180 kDa transmembrane protein belonging to the immunoglobulin superfamily of adhesion molecules. In kidneys, nephrin is located exclusively to the podocyte slit diaphragm and it has a key role in organising amd maintaining the renal ultrafiltation barrier. LÄS MER