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Article

Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.

BMC nephrology - 25 May 2011

Benhaj Mbarek Ibtihel, Abroug Saoussen, Omezzine Asma, Zellama Dorsaf, Achour Abdellatif, Harbi Abdelaziz, Bouslama Ali

Abstract excerpt

BACKGROUND: Primary hyperoxaluria type I (PH1) is a rare genetic disorder characterized by allelic and clinical heterogeneity. Four mutations (G170R, 33_34insC, I244T and F152I) account for more than 50% of PH1 alleles and form the basis for diagnostic genetic screening for PH1. We aimed to analyze the prevalence of these specific mutations causing PH1, and to provide an accurate tool for diagnosis of...

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Identifiers

PMID: 21612638
DOI: 10.1186/1471-2369-12-25
PMCID: PMC3123632

Genes

AGXT

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Source receipt: pubmed, retrieved 7 Sept 2026.

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