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Article

Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.

Kidney international - 1 Apr 1995

Gubler M C, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel M M, Antignac C

Abstract excerpt

Alport syndrome (AS) is an hereditary disease of basement membrane collagen. It is mainly transmitted as a dominant X-linked trait and caused by mutations in the COL4A5 gene encoding the alpha 5 chain of type IV collagen. However, autosomal recessive AS due to mutations in the COL4A3 or COL4A4 genes could represent up to 15% of AS. Using the immunofluorescence technique, we analyzed the distribution of the...

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Identifiers

PMID: 7783412
DOI: 10.1038/ki.1995.163

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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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