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Article

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

Human mutation - 1 Aug 2001

Hertz J M, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen M B, Kjeldsen M, Gregersen N

Abstract excerpt

Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the alpha5-chain of type IV-collagen. We performed mutation analysis of the COL4A5 gene by PCR-SSCP analysis of each of the 51 exons...

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Identifiers

PMID: 11462238
DOI: 10.1002/humu.1163

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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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