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Review
. 2009 Dec;76(12):1221-3.
doi: 10.1038/ki.2009.391.

Expanding the spectrum of NPHS1-associated disease

Martin R Pollak  1
Affiliations
Free article
Review

Expanding the spectrum of NPHS1-associated disease

Martin R Pollak. Kidney Int. 2009 Dec.
Free article

Abstract

The nephrin gene NPHS1 was cloned in 1998. Studies in families with congenital nephrotic syndrome led to the identification of this critical component of the glomerular slit diaphragm. Studies such as the new one by Santín et al. are expanding our understanding of the spectrum of disease associated with NPHS1 mutations.

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  • 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. Kidney Int. 2009 Dec;76(12):1268-76. doi: 10.1038/ki.2009.381. Epub 2009 Oct 7. Kidney Int. 2009. PMID: 19812541

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