Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.

doi:10.1136/jmg.34.6.489

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Article

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.

Journal of medical genetics - 1 Jun 1997

von Schnakenburg C, Rumsby G

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is a severe autosomal recessive inborn error of glyoxylate metabolism caused by deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase. This enzyme is encoded by the AGXT gene on chromosome 2q37.3. DNA samples from 79 PH1 patients were...

Topics

Alanine Transaminase
Alleles
Base Sequence
Chromosomes, Human, Pair 2
DNA Mutational Analysis
DNA Primers
Exons
Genes, Recessive
Humans
Hyperoxaluria, Primary
Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Transaminases

Source

Open in PubMed Open full text

Identifiers

PMID: 9192270
DOI: 10.1136/jmg.34.6.489
PMCID: PMC1050973

Genes

AGXT
AGT

Variants

Provenance

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9192270-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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