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Article

Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2009

Gbadegesin Rasheed, Bartkowiak Bartlomiej, Lavin Peter J, Mukerji Nirvan, Wu Guanghong, Bowling Brandy, Eckel Jason, Damodaran Tirupapuliyur, Winn Michelle P

Abstract excerpt

Focal and segmental glomerulosclerosis (FSGS) is the most common glomerular cause of end-stage kidney disease (ESKD). Although the etiology of FSGS has not been fully elucidated, recent results from the positional cloning of genes mutated in nephrotic syndromes are now beginning to provide insight into the pathogenesis of these diseases. Mutations in PLCE1/NPHS3 have recently been reported as a cause of nephrotic...

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Identifiers

PMID: 18975016
DOI: 10.1007/s00467-008-1025-5
PMCID: PMC3070354

Genes

PLCE1

Variants

Provenance

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Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.PMID 18975016Read ↗

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