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Article

Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

Science (New York, N.Y.) - 8 Jun 1990

Barker D F, Hostikka S L, Zhou J, Chow L T, Oliphant A R, Gerken S C, Gregory M C, Skolnick M H, Atkin C L, Tryggvason K

Abstract excerpt

X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by progressive loss of hearing. Ultrastructural defects in glomerular basement membranes (GBM) of Alport syndrome patients implicate an altered structural protein as the cause of nephritis. The product of COL4A5, the alpha 5(IV) collagen chain, is a specific component of GBM within the...

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Identifiers

PMID: 2349482
DOI: 10.1126/science.2349482

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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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