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Article

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.

Kidney international - 1 Jan 1995

Hertz J M, Heiskari N, Zhou J, Jensen U B, Tryggvason K

Abstract excerpt

The X-linked form of Alport syndrome is associated with mutations in the COL4A5 gene encoding the alpha 5-chain of type IV collagen. By using PCR-amplification and direct sequencing we identified a novel mutation involving a deletion of the last two bases in the codon GGA for Glycine-1479 in exon 47 of the COL4A5 gene in a patient with a juvenile form of X-linked Alport syndrome with deafness. This two base...

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Identifiers

PMID: 7731166
DOI: 10.1038/ki.1995.43

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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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