Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome

Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype–phenotype correlation between podocin mutations and age of onset, a worldwide cohort of 430 patients from 404 different families with SRN...

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Détails bibliographiques
Auteurs principaux: Hinkes, Bernward, Vlangos, Christopher, Heeringa, Saskia, Mucha, Bettina, Gbadegesin, Rasheed, Liu, Jinhong, Hasselbacher, Katrin, Ozaltin, Fatih, Hildebrandt, Friedhelm
Format: Artigo
Langue:Inglês
Publié: American Society of Nephrology 2008
Sujets:
Clinical Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2396749/
https://ncbi.nlm.nih.gov/pubmed/18216321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2007040452
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