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Article

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

Clinical genetics - 1 Dec 2008

Hertz J M, Juncker I, Marcussen N

Abstract excerpt

The X-linked form of Alport syndrome (AS) is caused by mutations in the COL4A5 gene encoding the alpha5 chain of type IV collagen. Most COL4A5 mutations are individual, and mutation analysis is complicated by the size of the gene and the number of exons. Larger structural rearrangements account for 10-15% of mutations. We have established a method for mutation analysis of COL4A5 based on reverse...

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Identifiers

PMID: 18616531
DOI: 10.1111/j.1399-0004.2008.01051.x

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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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