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Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome

Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset steroid-resistant nephrotic syndrome in European populations. Genotype–phenotype...

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Bibliografski detalji
Glavni autori: Machuca, Eduardo, Benoit, Geneviève, Nevo, Fabien, Tête, Marie-Josèphe, Gribouval, Olivier, Pawtowski, Audrey, Brandström, Per, Loirat, Chantal, Niaudet, Patrick, Gubler, Marie-Claire, Antignac, Corinne
Format: Artigo
Jezik:Inglês
Izdano: American Society of Nephrology 2010
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3152225/
https://ncbi.nlm.nih.gov/pubmed/20507940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2009121309
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