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Article

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

Kidney international - 1 Apr 2009

Machuca Eduardo, Hummel Aurélie, Nevo Fabien, Dantal Jacques, Martinez Frank, Al-Sabban Essam, Baudouin Véronique, Abel Laurent, Grünfeld Jean-Pierre, Antignac Corinne

Abstract excerpt

Mutations of NPHS2, encoding podocin, are the main cause of autosomal recessive steroid-resistant nephrotic syndrome (NS) presenting in childhood. Adult-onset steroid-resistant NS has been described in patients heterozygous for a pathogenic NPHS2 mutation together with the p.R229Q variant. To determine the frequency and the phenotype of patients carrying the p.R229Q variant, we sequenced the complete coding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19145239
DOI: 10.1038/ki.2008.650

Genes

NPHS2

Variants

Provenance

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Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.PMID 19145239Read ↗

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