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Article

A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Sept 2006

Williams Emma L, Kemper Markus J, Rumsby Gill

Abstract excerpt

Primary hyperoxaluria type 1 is caused by mutations in the alanine-glyoxylate aminotransferase (AGXT) gene. In cases in which no mutation was identified, linkage analysis can be used to confirm or exclude the diagnosis in other siblings. We present a family in which a sibling of the index case predicted to have primary hyperoxaluria type 1 by means of linkage analysis failed to show hyperoxaluria during the...

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Source

Identifiers

PMID: 16931222
DOI: 10.1053/j.ajkd.2006.05.022

Genes

AGXT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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