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Article

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

Human mutation - 1 Oct 2006

King Kathy, Flinter Frances A, Green Peter M

Abstract excerpt

About 85% of Alport syndrome is an X-linked semi-dominant condition caused by mutations in the collagen gene, COL4A5. The large size and high GC content of this gene have presented diagnostic laboratories with problems in identifying mutations with greater than about a 50% success rate since the gene was first cloned 16 years ago. An RNA based approach is adopted here for a first pass mutation scanning coupled...

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Identifiers

PMID: 16941480
DOI: 10.1002/humu.9453

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.PMID 16941480Read ↗

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