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Article

Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.

Molecular genetics & genomic medicine - 1 Oct 2020

Helle Ole Magnus Bjorgaas, Pedersen Torkild Høieggen, Ousager Lilian Bomme, Thomassen Mads, Hertz Jens Michael

Abstract excerpt

BACKGROUND: Alport syndrome is a progressive hereditary kidney disease clinically presenting with haematuria, proteinuria, and early onset end-stage renal disease, and often accompanied by hearing loss and ocular abnormalities. The inheritance is X-linked in the majority of families and caused by sequence variants in the COL4A5 gene encoding the α5-chain of type-IV collagen. The proportion of de novo COL4A5...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32812400
DOI: 10.1002/mgg3.1452
PMCID: PMC7549549

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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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