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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...

Topics

Adolescent
Adult
Aged
Base Sequence
Basement Membrane
Collagen
DNA
DNA, Recombinant
Exons
Female
Genes
Humans
Kidney Glomerulus
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Probes

Molecular Sequence Data

Mutation

Nephritis, Hereditary

Source

Identifiers

PMID: 8510391
DOI: 10.1038/ki.1993.157

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8510391-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome.PMID 8510391Read ↗

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