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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Detalhes bibliográficos
Main Authors: Machuca, Eduardo, Benoit, Geneviève, Nevo, Fabien, Tête, Marie-Josèphe, Gribouval, Olivier, Pawtowski, Audrey, Brandström, Per, Loirat, Chantal, Niaudet, Patrick, Gubler, Marie-Claire, Antignac, Corinne
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2010
Assuntos:
Clinical Research
Acesso em linha: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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