Sökning: "Stefania Cotta Doné"
Hittade 1 avhandling innehållade orden Stefania Cotta Doné.
1. Nephrin : intracellular trafficking and podocyte maturation
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
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