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Article

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

Human mutation - 1 Jul 2005

Nagel Mato, Nagorka Sylvia, Gross Oliver

Abstract excerpt

This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate of 90% was achieved among patients with typical clinical symptoms and a characteristic family history in both...

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Identifiers

PMID: 15954103
DOI: 10.1002/humu.9349

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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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Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.PMID 15954103Read ↗

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