X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

doi:10.1681/ASN.V114649

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Article

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Journal of the American Society of Nephrology : JASN - 1 Apr 2000

Jais Jean Philippe, Knebelmann Bertrand, Giatras Iannis, Marchi Mario DE, Rizzoni Gianfranco, Renieri Alessandra, Weber Manfred, Gross Oliver, Netzer Kai-Olaf, Flinter Frances, Pirson Yves, Verellen Christine, Wieslander Jörgen, Persson Ulf, Tryggvason Karl, Martin Paula, Hertz Jens Michael, Schröder Cornelis, Sanak Marek, Krejcova Sarka, Carvalho Maria Fernanda, Saus Juan, Antignac Corinne, Smeets Hubert, Gubler Marie Claire

Abstract excerpt

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease. Considerable allelic heterogeneity has been observed. A "European Community Alport Syndrome Concerted Action" has been...

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PMID: 10752524
DOI: 10.1681/ASN.V114649

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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