INVERTED FORMIN 2 MUTATIONS WITH VARIABLE EXPRESION IN PATIENTS WITH SPORADIC AND HEREDITARY FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS

Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease. Recent advances in molecular genetics show that defects in the podocyte play a major role in its pathogenesis and mutations in inverted formin 2 (INF2) cause autosomal dominant FSGS. In order to delineate the...

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Hoofdauteurs: Gbadegesin, Rasheed, Lavin, Peter J., Hall, Gentzon, Bartkowiak, B, Homstad, A, Jiang, R, Wu, G, Byrd, A, Lynn, Kelvin, Wolfish, Norman, Ottati, Carolina, Stevens, Paul, Howell, David, Conlon, Peter, Winn, Michelle P.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2011
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3694501/
https://ncbi.nlm.nih.gov/pubmed/21866090
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ki.2011.297
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