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Article

Genotype-Based Molecular Mechanisms in Alport Syndrome.

Journal of the American Society of Nephrology : JASN - 1 Jun 2025

Caparali Emine Bilge, De Gregorio Vanessa, Barua Moumita

Abstract excerpt

Alport syndrome is an inherited disorder characterized by kidney disease, sensorineural hearing loss, and ocular abnormalities. Alport syndrome is caused by pathogenic variants in COL4A3 , COL4A4 , or COL4A5 , which encode the α 3, α 4, and α 5 chains of type 4 collagen that forms a heterotrimer expressed in the glomerular basement membrane. Knowledge of its genetic basis has informed the development of different...

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Source

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Identifiers

PMID: 39899372
DOI: 10.1681/ASN.0000000647
PMCID: PMC12147967

Genes

COL4A3
COL4A4
COL4A5

Provenance

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