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Article

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.

Human genetics - 1 Dec 2002

King Kathy, Flinter Frances A, Nihalani Vandana, Green Peter M

Abstract excerpt

The X-linked form of Alport syndrome is caused by mutations in the COL4A5 gene in Xq22. This large multiexonic gene has, in the past, been difficult to screen, with several studies detecting only about 50% of mutations. We report three novel intronic mutations that may, in part, explain this poor success rate and demonstrate that single base changes deep within introns can, and do, cause disease: one mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12436246
DOI: 10.1007/s00439-002-0830-3

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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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Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.PMID 12436246Read ↗

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