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Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Kidney Int. 2009 Dec;76(12):1268-76. doi: 10.1038/ki.2009.381. Epub 2009 Oct 7.
Kidney Int. 2009.
PMID: 19812541
Free article.
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
Santín S, Ars E, Rossetti S, Salido E, Silva I, García-Maset R, Giménez I, Ruíz P, Mendizábal S, Luciano Nieto J, Peña A, Camacho JA, Fraga G, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Sánchez-Moreno A, Pintos G, Mirapeix E, Fernández-Llama P, Ballarín J, Torra R; FSGS Study Group; Zamora I, López-Hellin J, Madrid A, Ventura C, Vilalta R, Espinosa L, García C, Melgosa M, Navarro M, Giménez A, Cots JV, Alexandra S, Caramelo C, Egido J, San José MD, de la Cerda F, Sala P, Raspall F, Vila A, Daza AM, Vázquez M, Ecija JL, Espinosa M, Justa ML, Poveda R, Aparicio C, Rosell J, Muley R, Montenegro J, González D, Hidalgo E, de Frutos DB, Trillo E, Gracia S, de los Ríos FJ.
Santín S, et al. Among authors: de pablos al.
Nephrol Dial Transplant. 2009 Oct;24(10):3089-96. doi: 10.1093/ndt/gfp229. Epub 2009 May 20.
Nephrol Dial Transplant. 2009.
PMID: 19458060
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Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
de Pablos AL, García-Nieto V, López-Menchero JC, Ramos-Trujillo E, González-Acosta H, Claverie-Martín F.
de Pablos AL, et al.
Clin Nephrol. 2014 May;81(5):363-8. doi: 10.5414/CN107687.
Clin Nephrol. 2014.
PMID: 23110775
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