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Article

Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.

Journal of the American Society of Nephrology : JASN - 1 Jun 2007

Monico Carla G, Rossetti Sandro, Schwanz Heidi A, Olson Julie B, Lundquist Patrick A, Dawson D Brian, Harris Peter C, Milliner Dawn S

Abstract excerpt

Mutations in AGXT, a locus mapped to 2q37.3, cause deficiency of liver-specific alanine:glyoxylate aminotransferase (AGT), the metabolic error in type 1 primary hyperoxaluria (PH1). Genetic analysis of 55 unrelated probands with PH1 from the Mayo Clinic Hyperoxaluria Center, to date the largest with availability of complete sequencing across the entire AGXT coding region and documented hepatic AGT deficiency,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17460142
DOI: 10.1681/ASN.2006111230

Genes

AGXT
AGT

Variants

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.

Related research

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Research trail→

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Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.PMID 17460142Read ↗

Selected Exonic Sequencing of the AGXT Gene Provides a Genetic Diagnosis in 50% of Patients with Primary Hyperoxaluria Type 1Semantic proximity Read ↗

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.Semantic proximity Read ↗

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.Semantic proximity Read ↗

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

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.Semantic proximity Read ↗

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

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.Semantic proximity Read ↗

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