Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.

doi:10.1038/ki.1994.399

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Article

Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.

Kidney international - 1 Nov 1994

Nakazato H, Hattori S, Ushijima T, Matsuura T, Koitabashi Y, Takada T, Yoshioka K, Endo F, Matsuda I

Abstract excerpt

Using a combination of gene amplification with single strand conformation polymorphisms analysis and sequencing, we examined the COL4A5 gene in 37 patients with Alport syndrome. In patient A8, a single base insertion was noted at codon 1,597 tyrosine in exon 49. The premature terminal signal appeared and 89 amino acids (approximately one-third) of the non-collagenous domain were lost. The mutation was present in...

Topics

Adolescent
Alleles
Amino Acid Sequence
Base Sequence
Basement Membrane
Child
Collagen
DNA Primers
Exons
Female
Germ Cells
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Nephritis, Hereditary

Pedigree

Skin

Source

Open in PubMed

Identifiers

PMID: 7853788
DOI: 10.1038/ki.1994.399

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7853788-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.PMID 7853788Read ↗

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