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

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Kidney International

• Publication date

  2009-04-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1038/ki.2008.650PMID 19145239
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• A Review of Focal Segmental Glomerulosclerosis Classification With a Focus on Genetic Associations

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• Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin

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• Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease

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• The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood

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• Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants

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• Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome

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