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Article

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.

Journal of nephrology - 1 Jan 2000

Yuen Yuet-Ping, Lai Chi-Kong, Tong Gensy Mei-Wah, Wong Ping-Nam, Wong Francis Kim-Ming, Mak Siu-Ka, Lo Kin-Yee, Wong Andrew Kui-Man, Tong Sui-Fan, Chan Yan-Wo, Lam Ching-Wan

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type 1 (PH1), an inherited cause of nephrolithiasis, is due to a functional defect of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). A definitive PH1 diagnosis can be established by analyzing AGT activity in liver tissue or mutation analysis of the AGXT gene. METHODS: The molecular basis of PH1 in three Chinese patients, two with adult-onset and...

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Identifiers

PMID: 15365967

Genes

AGXT
AGT

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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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Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.PMID 15365967Read ↗

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

[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].Semantic proximity Read ↗

Identification of new mutations in primary hyperoxaluria type 1 (PH1).Semantic proximity Read ↗

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