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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 79 PH1 patients using single strand conformation polymorphism analysis. In addition to a cluster of new mutations in...

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Source

Identifiers

PMID: 9604803

Genes

AGXT
AGT

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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Identification of new mutations in primary hyperoxaluria type 1 (PH1).PMID 9604803Read ↗

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