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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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Bibliografiska uppgifter
Huvudupphovsmän: Machuca, Eduardo, Benoit, Geneviève, Nevo, Fabien, Tête, Marie-Josèphe, Gribouval, Olivier, Pawtowski, Audrey, Brandström, Per, Loirat, Chantal, Niaudet, Patrick, Gubler, Marie-Claire, Antignac, Corinne
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society of Nephrology 2010
Ämnen:
Länkar: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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