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Article

A deletion mutation in the 3' end of the alpha 5(IV) collagen gene in juvenile-onset Alport syndrome.

Journal of the American Society of Nephrology : JASN - 1 Mar 1994

Saito A, Sakatsume M, Yamazaki H, Ogata F, Hirasawa Y, Arakawa M

Abstract excerpt

Alport syndrome is a hereditary progressive glomerular basement membrane disorder in which juvenile-or adult-onset renal failure is often accompanied by sensorineural deafness and ocular abnormalities. Recently, mutations have been found in the type IV collagen alpha 5 chain gene in patients with X-linked Alport syndrome. This study searched for gene mutations in seven unrelated Japanese patients by the use of...

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Identifiers

PMID: 8011973
DOI: 10.1681/ASN.V491649

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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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A deletion mutation in the 3' end of the alpha 5(IV) collagen gene in juvenile-onset Alport syndrome.PMID 8011973Read ↗

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A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.Semantic proximity Read ↗

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