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Article

Molecular genetics of Alport syndrome.

Kidney international - 1 Jan 1993

Tryggvason K, Zhou J, Hostikka S L, Shows T B

Abstract excerpt

Alport syndrome is a progressive hereditary kidney disease characterized by hematuria, sensorineural hearing loss and ocular lesions with structural defects in the glomerular basement membrane (GBM). The gene frequency has been estimated to be 1:5000. The disease is primarily X chromosome-linked, but autosomal forms have also been reported. The X-linked form has been shown to be caused by mutations in a recently...

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Identifiers

PMID: 8433568
DOI: 10.1038/ki.1993.8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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