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Article

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

Clinical journal of the American Society of Nephrology : CJASN - 1 Apr 2013

McCarthy Hugh J, Bierzynska Agnieszka, Wherlock Matt, Ognjanovic Milos, Kerecuk Larissa, Hegde Shivaram, Feather Sally, Gilbert Rodney D, Krischock Leah, Jones Caroline, Sinha Manish D, Webb Nicholas J A, Christian Martin, Williams Margaret M, Marks Stephen, Koziell Ania, Welsh Gavin I, Saleem Moin A

Abstract excerpt

BACKGROUND AND OBJECTIVES: Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a pathogenic single-gene mutation in 1 of 24 genes currently associated with this disease. Others may be affected by polymorphic variants. There is currently no accepted diagnostic algorithm for clinical genetic testing. The hypothesis was that the increasing reliability of next generation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23349334
DOI: 10.2215/CJN.07200712
PMCID: PMC3613958

Genes

NPHS1
COQ2
NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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