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Article

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.

Genomics - 1 Aug 1993

Lemmink H H, Schröder C H, Brunner H G, Nelen M R, Zhou J, Tryggvason K, Haagsma-Schouten W A, Roodvoets A P, Rascher W, van Oost B A

Abstract excerpt

The type IV collagen alpha 5 chain (COL4A5) genes of patients with Alport syndrome were tested for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA clones as probes. In addition, individual exons were screened for small mutations by single-strand conformation polymorphism (SSCP) analysis. Four new COL4A5 mutations were detected. A duplication of the nine most 3' located nucleotides of exon...

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Identifiers

PMID: 8406498
DOI: 10.1006/geno.1993.1351

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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