Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Classically, infants with mutations in NPHS1, which encodes nephrin, present with nephrotic syndrome within the first 3 mo of life (congenital nephrotic syndrome of the Finnish-type), and children with mutations in NPHS2, which encodes podocin, present later with steroid-resistant nephrotic syndrome...

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Autors principals: Philippe, Aurélie, Nevo, Fabien, Esquivel, Ernie L., Reklaityte, Dalia, Gribouval, Olivier, Tête, Marie-Josèphe, Loirat, Chantal, Dantal, Jacques, Fischbach, Michel, Pouteil-Noble, Claire, Decramer, Stéphane, Hoehne, Martin, Benzing, Thomas, Charbit, Marina, Niaudet, Patrick, Antignac, Corinne
Format: Artigo
Idioma:Inglês
Publicat: American Society of Nephrology 2008
Matèries:
Brief Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2551572/
https://ncbi.nlm.nih.gov/pubmed/18614772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2008010059
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