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Article

Identification of new mutations in primary hyperoxaluria type 1 (PH1).

Journal of nephrology - 1 Jan 2000

von Schnakenburg C, Rumsby G

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). The AGXT gene, which codes for the 392 amino acid protein, has been mapped to chromosome 2q37.3. In order to identify new mutations in the AGXT gene we studied 7...

Topics

Adult
Child
Chromosomes, Human, Pair 2
DNA Mutational Analysis
Exons
Humans
Hyperoxaluria, Primary
Male
Mutation
Polymorphism, Single-Stranded Conformational
Transaminases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9604803

Genes

AGXT
AGT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9604803-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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