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Article

Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Nov 2003

Tazón Vega Bárbara, Badenas Cèlia, Ars Elisabet, Lens Xose, Milà Montse, Darnell Alejandro, Torra Roser

Abstract excerpt

BACKGROUND: Alport's syndrome (AS) is a genetically heterogeneous renal hereditary disease. Mutations in collagen type IV genes have been described to be responsible for X-linked (COL4A5), autosomal recessive, and autosomal dominant AS (COL4A3/COL4A4). Moreover, at least 40% of benign familial hematuria (BFH) cases cosegregate with the COL4A3/COL4A4 loci, following a dominant pattern of inheritance. Therefore, it...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14582039
DOI: 10.1016/j.ajkd.2003.08.002

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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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