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Article

Benign familial hematuria associated with a novel COL4A4 mutation.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2001

Ozen S, Ertoy D, Heidet L, Cohen-Solal L, Ozen H, Besbas N, Bakkaoglu A, Antignac C

Abstract excerpt

We describe a father and three offspring with hematuria. The father and one girl also complained of flank pain. Renal function tests and ophthalmological examinations were normal in all. The father had very mild neural deafness. The renal biopsy samples of two affected siblings showed changes compatible with thin basement membrane disease. Genetic analysis revealed a novel missense mutation in exon 32 of COL4A4...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11685592
DOI: 10.1007/s004670100673

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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