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Article

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.

Clinical biochemistry - 1 May 2008

Coulter-Mackie Marion B, Lian Qun, Applegarth Derek A, Toone Jennifer, Waters Paula J, Vallance Hilary

Abstract excerpt

OBJECTIVES: To test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1). DESIGN AND METHODS: Samples of liver and/or DNA from 81 patients were submitted to our laboratory for diagnostic testing for PH1. Using a panel of selected mutations, DNA was examined in 64 cases, of which 36 had the diagnosis of PH1 confirmed by liver AGT...

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Source

Identifiers

PMID: 18282470
DOI: 10.1016/j.clinbiochem.2008.01.018

Genes

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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