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Article

A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome.

Kidney international - 1 May 1993

Nomura S, Osawa G, Sai T, Harano T, Harano K

Abstract excerpt

DNA sequence analysis of the alpha 5(IV) collagen chain gene (COL4A5) was carried out between exon 47 and 51, which encode the noncollagenous (NC) domain, in eight Japanese families with Alport's syndrome. In one family with X-linked inheritance of the disease, a point mutation (G to C) was found at the 3' end of exon 49 in the COL4A5. This mutation converted the codon of a conserved methionine-1601 to the codon...

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Identifiers

PMID: 8510391
DOI: 10.1038/ki.1993.157

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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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