A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.

doi:10.1038/ki.1995.43

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Article

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.

Kidney international - 1 Jan 1995

Hertz J M, Heiskari N, Zhou J, Jensen U B, Tryggvason K

Abstract excerpt

The X-linked form of Alport syndrome is associated with mutations in the COL4A5 gene encoding the alpha 5-chain of type IV collagen. By using PCR-amplification and direct sequencing we identified a novel mutation involving a deletion of the last two bases in the codon GGA for Glycine-1479 in exon 47 of the COL4A5 gene in a patient with a juvenile form of X-linked Alport syndrome with deafness. This two base...

Topics

Adult
Base Sequence
Chromosome Deletion
Collagen
DNA
DNA Primers
Exons
Female
Fetal Diseases
Genetic Carrier Screening
Genetic Linkage
Glycine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Molecular Sequence Data

Mutation

Nephritis, Hereditary

Pedigree

Source

Open in PubMed

Identifiers

PMID: 7731166
DOI: 10.1038/ki.1995.43

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7731166-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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