Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation

por Phelan, Paul J., Hall, Gentzon, Wigfall, Delbert, Foreman, John, Nagaraj, Shashi, Malone, Andrew F., Winn, Michelle P., Howell, David N., Gbadegesin, Rasheed
Publicado 2015

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

por Malone, Andrew F, Phelan, Paul J, Hall, Gentzon, Cetincelik, Umran, Homstad, Alison, Alonso, Andrea, Jiang, Ruiji, Lindsey, Thomas, Wu, Guanghong, Sparks, Matthew A, Smith, Stephen R, Webb, Nicholas J A, Kalra, Philip, Adeyemo, Adebowale, Shaw, Andrey S, Conlon, Peter J, Jennette, J Charles, Howell, David N, Winn, Michelle P, Gbadegesin, Rasheed A
Publicado 2014