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Article

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.

Gene - 10 Sept 2013

Beicht Sonja, Strobl-Wildemann Gertrud, Rath Sabine, Wachter Oliver, Alberer Martin, Kaminsky Elke, Weber Lutz T, Hinrichsen Tanja, Klein Hanns-Georg, Hoefele Julia

Abstract excerpt

Alport syndrome (ATS) is a progressive hereditary nephropathy characterized by hematuria and/or proteinuria with structural defects of the glomerular basement membrane. It can be associated with extrarenal manifestations (high-tone sensorineural hearing loss and ocular abnormalities). Somatic mutations in COL4A5 (X-linked), COL4A3 and COL4A4 genes (both autosomal recessive and autosomal dominant) cause Alport...

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Identifiers

PMID: 23732293
DOI: 10.1016/j.gene.2013.05.045

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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