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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: American Society of Nephrology 2010
Sujets:
Clinical Research
Accès en ligne: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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