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TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
Nephrol Dial Transplant. 2009 Oct;24(10):3089-96. doi: 10.1093/ndt/gfp229. Epub 2009 May 20.
Nephrol Dial Transplant. 2009.
PMID: 19458060
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S, García-Maset R, Ruíz P, Giménez I, Zamora I, Peña A, Madrid A, Camacho JA, Fraga G, Sánchez-Moreno A, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Pintos G, Justa ML, Hidalgo-Barquero E, Fernández-Llama P, Ballarín J, Ars E, Torra R; FSGS Spanish Study Group.
Santín S, et al. Among authors: de pablos al.
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.
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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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