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Article

Detection of mutations in COL4A5 in patients with Alport syndrome.

Human mutation - 1 Jan 1999

Plant K E, Green P M, Vetrie D, Flinter F A

Abstract excerpt

Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutations were identified in 77 families (of which 20 have previously been reported) and are reported with all available...

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Source

Identifiers

PMID: 10094548
DOI: 10.1002/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z

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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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Detection of mutations in COL4A5 in patients with Alport syndrome.PMID 10094548Read ↗

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Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.Semantic proximity Read ↗

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Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.Semantic proximity Read ↗

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.Semantic proximity Read ↗

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A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.Semantic proximity Read ↗

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