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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 studied using single strand conformation polymorphism analysis to detect sequence variants, which were then...

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Source

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Identifiers

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

Genes

AGXT
AGT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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